ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.3290T>A (p.Phe1097Tyr) (rs1131692271)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000496004 SCV000584061 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2017-06-08 criteria provided, single submitter research

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