ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.484G>A (p.Gly162Ser)

gnomAD frequency: 0.00005  dbSNP: rs754902005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000405577 SCV000344552 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480049 SCV002782013 uncertain significance Townes-Brocks syndrome 1 2021-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522015 SCV003454542 likely benign Townes syndrome 2024-02-06 criteria provided, single submitter clinical testing

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