ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu)

dbSNP: rs2075714342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195912 SCV001366336 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2018-12-14 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP2.

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