ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.540C>T (p.Asp180=) (rs143656971)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556976 SCV000650850 benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000556976 SCV000744751 benign Niemann-Pick disease type C1 2017-06-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000556976 SCV001284696 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000556976 SCV000745719 likely benign Niemann-Pick disease type C1 2016-11-25 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675582 SCV000801273 benign not provided 2017-06-28 no assertion criteria provided clinical testing

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