ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1348A>G (p.Ile450Val)

gnomAD frequency: 0.00005  dbSNP: rs141892620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595669 SCV000707320 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing
Invitae RCV001435395 SCV001638216 likely benign Niemann-Pick disease, type C1 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000595669 SCV003918427 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000595669 SCV004224466 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing

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