ClinVar Miner

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

dbSNP: rs141546409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513541 SCV001721174 benign Duane-radial ray syndrome 2023-09-04 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

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