ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.222A>G (p.Thr74=)

gnomAD frequency: 0.03925  dbSNP: rs2229521
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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 RCV000386999 SCV000365898 benign Autoimmune lymphoproliferative syndrome type 1 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 RCV000386999 SCV001717711 benign Autoimmune lymphoproliferative syndrome type 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001683217 SCV001898077 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10402071)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003401291 SCV004102562 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 21% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001683217 SCV005319918 benign not provided criteria provided, single submitter not provided

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