ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) (rs145145840)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723515 SCV000110334 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251909 SCV000303377 likely benign not specified criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000610648 SCV000744741 likely benign Niemann-Pick disease type C1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000610648 SCV001013207 likely benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000610648 SCV001283368 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610648 SCV000733754 likely benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000610648 SCV000745696 likely benign Niemann-Pick disease type C1 2016-06-13 no assertion criteria provided clinical testing

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