ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.2322G>A (p.Ser774=) (rs139445683)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000296065 SCV000342137 uncertain significance not provided 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV001080721 SCV001042061 likely benign Schimke immuno-osseous dysplasia 2020-10-19 criteria provided, single submitter clinical testing

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