ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2472C>G (p.Thr824=)

dbSNP: rs1338342544
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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 RCV001471587 SCV001675697 likely benign Schimke immuno-osseous dysplasia 2022-12-16 criteria provided, single submitter clinical testing

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