ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile)

gnomAD frequency: 0.00538  dbSNP: rs146689929
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331981 SCV000483662 likely benign Acrodysostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370244 SCV000483663 likely benign Carney complex 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000887096 SCV001030635 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151051 SCV003839497 benign not specified 2022-11-03 no assertion criteria provided clinical testing

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