ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=)

gnomAD frequency: 0.00003  dbSNP: rs767158204
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001483889 SCV001688296 likely benign Schimke immuno-osseous dysplasia 2022-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001483889 SCV002076281 likely benign Schimke immuno-osseous dysplasia 2020-10-08 no assertion criteria provided clinical testing

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