ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala)

dbSNP: rs587784419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147568 SCV000195016 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2013-02-08 criteria provided, single submitter clinical testing

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