ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1801_1803del (p.Arg601del) (rs1555613421)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658093 SCV000779864 likely pathogenic not provided 2018-07-20 criteria provided, single submitter clinical testing The c.1801_1803delCGG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge; however, this variant has been identified de novo in an individual at GeneDx. The variant is not observed in large population cohorts (Lek et al., 2016). The variant results in the in-frame deletion of Arginine 601. In summary, we consider this to be a likely pathogenic variant.

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