ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.365C>T (p.Thr122Ile)

gnomAD frequency: 0.00774  dbSNP: rs3218614
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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 RCV000290355 SCV000365899 benign Autoimmune lymphoproliferative syndrome type 1 2018-01-12 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 RCV000290355 SCV000637305 benign Autoimmune lymphoproliferative syndrome type 1 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001705893 SCV001814398 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705893 SCV005221887 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000121046 SCV000085214 not provided not specified 2013-09-19 no assertion provided reference population

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