ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)

gnomAD frequency: 0.00636  dbSNP: rs61731131
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871349 SCV001012986 benign Townes syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001653564 SCV001867732 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480143 SCV002803099 likely benign Townes-Brocks syndrome 1 2021-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653564 SCV005289812 benign not provided criteria provided, single submitter not provided

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