ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.50C>G (p.Ser17Ter) (rs1057518670)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415358 SCV000328747 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses in MYH2 (NM_017534.5:c.1160C>T) and SMC1A (NM_006306.3:c.116C>G) in an individual reported to have delayed motor milestones, delayed speech, intellectual disability, hypotonia, seizure disorder, dysmorphic features, short stature, microcephaly, joint contractures, failure to thrive, cerebral palsy, scoliosis, and sensitive skin.

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