ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) (rs61731962)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078466 SCV000110322 benign not specified 2013-04-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000559670 SCV000407881 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001719815 SCV000513948 benign not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12955717)
Invitae RCV000559670 SCV000650833 benign Niemann-Pick disease type C1 2020-11-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000078466 SCV001808800 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078466 SCV001923602 benign not specified no assertion criteria provided clinical testing

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