ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3438-7C>T

gnomAD frequency: 0.00020  dbSNP: rs782796392
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000938988 SCV001084821 benign Congenital muscular hypertrophy-cerebral syndrome 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288777 SCV001476126 benign not specified 2020-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454145 SCV002616906 likely benign Inborn genetic diseases 2016-09-22 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.
Fulgent Genetics, Fulgent Genetics RCV002502874 SCV002796149 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2021-11-29 criteria provided, single submitter clinical testing

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