ClinVar Miner

Submissions for variant NM_005321.2(H1-4):c.441dup (p.Lys148fs) (rs1131690806)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782004 SCV000920464 pathogenic not provided 2018-01-09 criteria provided, single submitter clinical testing
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital RCV000492407 SCV000925236 pathogenic RAHMAN SYNDROME 2019-05-01 criteria provided, single submitter research
OMIM RCV000492407 SCV000580688 pathogenic RAHMAN SYNDROME 2017-06-27 no assertion criteria provided literature only

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