ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His) (rs122454123)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000012441 SCV000747077 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-03-08 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000012441 SCV001368008 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2019-03-06 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3.
OMIM RCV000012441 SCV000032675 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2009-02-01 no assertion criteria provided literature only

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