ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)

dbSNP: rs863225458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University Hospitals Case Medical Center/Case Western Reserve University RCV000202429 SCV000245564 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2015-09-08 criteria provided, single submitter clinical testing Developmental delay and seizures, with either mild or absent classic CdLS facial features.
GeneDx RCV000394437 SCV000330284 pathogenic not provided 2025-01-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene where this variant type is part of the mutation spectrum reported in the published literature (PMID: 31175295, 32725632, 35238682, 35712061); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37107610, 33057194, 31175295, 32725632, 35238682, 35712061, 30158690, 26386245, 38421079)
Baylor Genetics RCV000202429 SCV000747081 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-03-08 criteria provided, single submitter clinical testing
OMIM RCV001072124 SCV001237467 pathogenic Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2015-10-01 no assertion criteria provided literature only

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