ClinVar Miner

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

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Total submissions: 2
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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.
GenomeConnect, ClinGen RCV001249574 SCV001423544 not provided Neurofibromatosis, type 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 05-16-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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