ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) (rs121918353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008065 SCV000028270 pathogenic Deafness, congenital heart defects, and posterior embryotoxon 2002-07-01 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000008065 SCV000883297 likely pathogenic Deafness, congenital heart defects, and posterior embryotoxon 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Deafness, congenital heart defects, and posterior embryotoxon, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP1-Moderate => PP1 upgraded in strength to Moderate . PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/20437614). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.

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