Variants
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rs1057518656

  • Likely pathogenic

Your Genotype

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Description

Our laboratory reported dual molecular diagnoses in GDF6 (NM_001001557.2, c.1271A>G) and SOX10 (NM_006941.3, c.316C>G) in one individual with reported features of developmental delay and unilateral hearing loss.

Reference Allele

G


Alternative Allele

C

T

Chromosome

22


Location

37983469


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.316C>G (p.Arg106Gly)


Allele

C


Clinical Significance

Likely pathogenic

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