ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2406T>C (p.Ala802=)

dbSNP: rs750552430
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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 RCV001489919 SCV001694472 likely benign Schimke immuno-osseous dysplasia 2023-11-21 criteria provided, single submitter clinical testing

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