ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)

gnomAD frequency: 0.00002  dbSNP: rs1210222346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001433965 SCV001636763 likely benign Congenital muscular hypertrophy-cerebral syndrome 2023-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495601 SCV002795792 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2022-01-25 criteria provided, single submitter clinical testing

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