ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)

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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 RCV003842106 SCV004648089 benign Congenital muscular hypertrophy-cerebral syndrome 2023-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040564 SCV005682751 uncertain significance Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2024-02-20 criteria provided, single submitter clinical testing

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