ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3729C>T (p.Asn1243=)

gnomAD frequency: 0.00024  dbSNP: rs148612488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001670243 SCV001891273 benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502017 SCV002812575 likely benign Townes-Brocks syndrome 1 2022-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538599 SCV003000158 likely benign Townes syndrome 2022-09-01 criteria provided, single submitter clinical testing

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