ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV001256205 SCV001371692 likely benign Congenital muscular hypertrophy-cerebral syndrome 2020-07-09 criteria provided, single submitter clinical testing ACMG criteria used for classification: PM2, PP2, PP3, BS2_very_strong: After performing segregation analysis we found this variant in a healthy adult male (hemizygous). Because SMC1A-associated Cornelia de Lange syndrome is expected to show full penetrance at an early age, we consider this variant to be likely benign.

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