ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.285C>G (p.Ala95=)

gnomAD frequency: 0.00001  dbSNP: rs587784414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147562 SCV000195010 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000147562 SCV001681058 likely benign Congenital muscular hypertrophy-cerebral syndrome 2022-08-16 criteria provided, single submitter clinical testing

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