ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2646G>A (p.Ser882=)

gnomAD frequency: 0.00005  dbSNP: rs1193658492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318246 SCV000851537 likely benign Inborn genetic diseases 2017-02-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002060949 SCV002485481 likely benign Congenital muscular hypertrophy-cerebral syndrome 2022-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485814 SCV002804129 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2022-03-28 criteria provided, single submitter clinical testing

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