ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) (rs145362908)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598092 SCV000704761 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV000688651 SCV000816273 likely benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000688651 SCV000896684 uncertain significance Niemann-Pick disease type C1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000688651 SCV001282243 uncertain significance Niemann-Pick disease type C1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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