ClinVar Miner

Submissions for variant NM_003873.7(NRP1):c.1627AAC[2] (p.Asn545del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004730292 SCV005339598 uncertain significance NRP1-related disorder 2024-04-10 no assertion criteria provided clinical testing The NRP1 c.1633_1635delAAC variant is predicted to result in an in-frame deletion (p.Asn545del). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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