ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2059-9T>C

gnomAD frequency: 0.00003  dbSNP: rs782041729
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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 RCV002545948 SCV001088437 likely benign Congenital muscular hypertrophy-cerebral syndrome 2023-07-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505399 SCV002809984 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2022-03-27 criteria provided, single submitter clinical testing

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