ClinVar Miner

Submissions for variant NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr)

dbSNP: rs1650987435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001030441 SCV001432971 uncertain significance Hypotrichosis 5 2020-07-29 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Hypotrichosis 5, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); Multiple lines of computational evidence suggest no impact on gene or gene product (BP4).
OMIM RCV001030441 SCV001193450 pathogenic Hypotrichosis 5 2020-03-30 no assertion criteria provided literature only

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