ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=)

dbSNP: rs142611198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002152752 SCV002417547 likely benign Congenital muscular hypertrophy-cerebral syndrome 2023-02-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480972 SCV002796069 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2021-10-20 criteria provided, single submitter clinical testing

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