ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) (rs34715591)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600947 SCV000717989 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605744 SCV000744740 benign Niemann-Pick disease type C1 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV000605744 SCV001012902 benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000605744 SCV001283365 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605744 SCV000733753 benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000605744 SCV000745695 likely benign Niemann-Pick disease type C1 2017-05-22 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675556 SCV000801247 likely benign not provided 2017-08-31 no assertion criteria provided clinical testing

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