ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2039G>A (p.Arg680His)

gnomAD frequency: 0.00001  dbSNP: rs1556889522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000930925 SCV001076585 likely benign Congenital muscular hypertrophy-cerebral syndrome 2023-12-14 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483747 SCV004228977 not provided Cornelia de Lange syndrome 1; Developmental and epileptic encephalopathy, 85, with or without midline brain defects no assertion provided phenotyping only Variant interpreted as Likely benign and reported on 03-06-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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