ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.66A>G (p.Ser22=) (rs144415945)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245310 SCV000303390 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000245310 SCV000345699 likely benign not specified 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV001081906 SCV000770854 likely benign Niemann-Pick disease type C1 2020-12-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001081906 SCV001287043 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000675584 SCV001810908 likely benign not provided 2021-01-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675584 SCV000801275 benign not provided 2015-10-23 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000675584 SCV001741009 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000675584 SCV001808880 likely benign not provided no assertion criteria provided clinical testing

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