ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2245-10G>T

gnomAD frequency: 0.00001  dbSNP: rs759266842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444142 SCV001647137 likely benign Schimke immuno-osseous dysplasia 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001444142 SCV002810638 likely benign Schimke immuno-osseous dysplasia 2021-08-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001444142 SCV002076322 likely benign Schimke immuno-osseous dysplasia 2020-07-13 no assertion criteria provided clinical testing

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