ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.505+16C>T

gnomAD frequency: 0.01048  dbSNP: rs3218620
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625076 SCV000743699 benign Autoimmune lymphoproliferative syndrome type 1 2014-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625076 SCV001728921 benign Autoimmune lymphoproliferative syndrome type 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001683616 SCV001900677 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683616 SCV005319920 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625076 SCV000745797 benign Autoimmune lymphoproliferative syndrome type 1 2017-04-05 no assertion criteria provided clinical testing

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