ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) (rs863225459)

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Total submissions: 2
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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 RCV000202430 SCV000245565 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.
OMIM RCV001072125 SCV001237468 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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