ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2794G>T (p.Ala932Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041880 SCV005682740 uncertain significance Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2024-02-28 criteria provided, single submitter clinical testing

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