ClinVar Miner

Submissions for variant NM_000266.4(NDP):c.384C>A (p.Cys128Ter) (rs104894873)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418772 SCV000516815 pathogenic not provided 2015-04-22 criteria provided, single submitter clinical testing The C128X nonsense variant in the NDP gene has been reported previously in association with Norriedisease (Wong et al., 1993; Schuback et al., 1995). This variant is predicted to cause loss of normal protein function through protein truncation. Therefore, we interpret this variant as pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000418772 SCV000700538 pathogenic not provided 2016-10-10 criteria provided, single submitter clinical testing
OMIM RCV000011432 SCV000031664 pathogenic Atrophia bulborum hereditaria 1993-11-01 no assertion criteria provided literature only

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