ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=)

gnomAD frequency: 0.00010  dbSNP: rs142314193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001406903 SCV001608865 likely benign Schimke immuno-osseous dysplasia 2023-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001406903 SCV002808448 likely benign Schimke immuno-osseous dysplasia 2021-07-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001406903 SCV002076307 likely benign Schimke immuno-osseous dysplasia 2019-10-23 no assertion criteria provided clinical testing

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