ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) (rs587784422)

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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 RCV000147571 SCV000195020 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2014-12-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000147571 SCV000328857 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2015-09-05 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in SMC1A (NM_006306.3, c.586C>T) and DMD (exon 49-51 deletion) in one individual with reported features of profound motor delay, bilateral hearing loss, diffused hypotonia, dysmorphia, cleft palate, microcephaly, vision loss, congenital heart disease.

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