ClinVar Miner

Submissions for variant NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys)

gnomAD frequency: 0.02926  dbSNP: rs17860405
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000020931 SCV000426108 benign Autoimmune lymphoproliferative syndrome type 2A 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000020931 SCV000644014 benign Autoimmune lymphoproliferative syndrome type 2A 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001668132 SCV001883819 benign not provided 2020-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31309545, 16537120, 26323380, 16446975, 17999750)
Breakthrough Genomics, Breakthrough Genomics RCV001668132 SCV005238010 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000020931 SCV000041546 not provided Autoimmune lymphoproliferative syndrome type 2A no assertion provided literature only

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