ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.537C>T (p.Leu179=)

gnomAD frequency: 0.00001  dbSNP: rs200539812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000878015 SCV001855604 benign not provided 2019-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056497 SCV002486162 benign Townes syndrome 2023-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495011 SCV002803347 likely benign Townes-Brocks syndrome 1 2021-10-29 criteria provided, single submitter clinical testing

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