ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3535A>G (p.Met1179Val)

gnomAD frequency: 0.00459  dbSNP: rs61731969
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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) RCV000078482 SCV000110338 benign not specified 2013-04-29 criteria provided, single submitter clinical testing
Invitae RCV000865157 SCV001006083 benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000865157 SCV001282155 benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001618244 SCV001844055 benign not provided 2019-12-06 criteria provided, single submitter clinical testing

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