ClinVar Miner

Submissions for variant NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) (rs137901350)

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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 RCV000576879 SCV000883274 likely pathogenic IMMUNODEFICIENCY 55 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Immunodeficiency 55, autosomal recessive. 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 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/28414293). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/28414293). PM3-Supporting => PM3 downgraded in strength to Supporting (https://www.ncbi.nlm.nih.gov/pubmed/28414293).
OMIM RCV000576879 SCV000678286 pathogenic IMMUNODEFICIENCY 55 2018-01-10 no assertion criteria provided literature only

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