ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.340_347del (p.Lys114fs)

dbSNP: rs794727928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724070 SCV000232762 pathogenic not provided 2014-06-13 criteria provided, single submitter clinical testing
GeneReviews RCV000180349 SCV000328438 not provided Intellectual disability, autosomal dominant 1 no assertion provided literature only

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