Variants
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rs1376895839

  • Uncertain significance

Your Genotype

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Description

This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

Reference Allele

A


Alternative Allele

C

G

Chromosome

2


Location

8770694


Variant Type

SNP

Genes

ClinVar

Name

NM_020738.4(KIDINS220):c.2987T>G (p.Met996Arg)


Allele

C


Clinical Significance

Uncertain significance

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