ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=)

gnomAD frequency: 0.00006  dbSNP: rs773940970
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001473868 SCV001678030 likely benign Schimke immuno-osseous dysplasia 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001473868 SCV002809531 likely benign Schimke immuno-osseous dysplasia 2022-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001473868 SCV002076301 likely benign Schimke immuno-osseous dysplasia 2021-07-07 no assertion criteria provided clinical testing

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