ClinVar Miner

Submissions for variant NM_000639.3(FASLG):c.259T>C (p.Phe87Leu)

gnomAD frequency: 0.00030  dbSNP: rs530390117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522939 SCV001732577 benign Autoimmune lymphoproliferative syndrome type 1 2023-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326584 SCV004032988 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing FASLG: BS2
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" RCV002283549 SCV002573416 pathogenic Immunodeficiency 98 with autoinflammation, X-linked 2022-05-01 no assertion criteria provided clinical testing

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