ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.387T>C (p.Ser129=)

dbSNP: rs947471355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001446207 SCV001649250 likely benign Schimke immuno-osseous dysplasia 2022-06-13 criteria provided, single submitter clinical testing

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