ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.298+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883367 SCV004697768 pathogenic Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects criteria provided, single submitter clinical testing

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