ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2103C>T (p.Asn701=)

gnomAD frequency: 0.01251  dbSNP: rs7227375
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174459 SCV000225765 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080567 SCV000407868 benign Niemann-Pick disease, type C1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001080567 SCV001005006 benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675569 SCV001894290 benign not provided 2019-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001080567 SCV002800561 benign Niemann-Pick disease, type C1 2022-01-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675569 SCV000801260 benign not provided 2017-09-27 no assertion criteria provided clinical testing

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