ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.264C>T (p.Ser88=)

gnomAD frequency: 0.00140  dbSNP: rs143501736
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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 RCV000634157 SCV000755456 benign Townes syndrome 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001672902 SCV001883500 benign not provided 2020-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507068 SCV002811200 likely benign Townes-Brocks syndrome 1 2021-07-21 criteria provided, single submitter clinical testing

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