ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3316C>T (p.Pro1106Ser)

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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 RCV005049854 SCV005682734 uncertain significance Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2024-04-04 criteria provided, single submitter clinical testing

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