ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.762C>T (p.Ala254=)

dbSNP: rs141546409
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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 RCV001513541 SCV001721174 benign Duane-radial ray syndrome 2024-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506601 SCV002802844 likely benign Duane-radial ray syndrome; Oculootoradial syndrome 2021-11-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717787 SCV005314581 benign not provided criteria provided, single submitter not provided

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