ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3438-18C>T

gnomAD frequency: 0.00007  dbSNP: rs781873202
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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 RCV002107538 SCV002394931 benign Congenital muscular hypertrophy-cerebral syndrome 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499961 SCV002804754 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2021-11-18 criteria provided, single submitter clinical testing

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