ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.246C>T (p.Cys82=)

gnomAD frequency: 0.00001  dbSNP: rs777751533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498073 SCV001702814 likely benign Autoimmune lymphoproliferative syndrome type 1 2024-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456500 SCV004184065 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FAS: BP4, BP7

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