ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) (rs34302553)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000317403 SCV000331143 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Invitae RCV000870814 SCV001012360 benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000870814 SCV001286844 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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