ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)

gnomAD frequency: 0.00002  dbSNP: rs781991944
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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 RCV001458030 SCV001661845 likely benign Congenital muscular hypertrophy-cerebral syndrome 2023-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488262 SCV002803296 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2021-10-05 criteria provided, single submitter clinical testing

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