rs200542541

Conflicting interpretations of pathogenicity

Your Genotype

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

Reference Allele

Alternative Allele

Chromosome

Location

32624415

Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_001370298.3(FGD4):c.1923-7A>G

Allele

Clinical Significance

Conflicting interpretations of pathogenicity