ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1621A>C (rs3822214)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121313 SCV000303052 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370023 SCV000449886 likely benign Gastrointestinal stromal tumor 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000261290 SCV000449887 likely benign Mastocytosis 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000315844 SCV000449888 likely benign Partial albinism 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV001012439 SCV001172890 benign Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000370023 SCV001716496 benign Gastrointestinal stromal tumor 2020-11-30 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034504 SCV000043281 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121313 SCV000085484 not provided not specified 2013-09-19 no assertion provided reference population
Database of Curated Mutations (DoCM) RCV000422326 SCV000505727 not provided Chronic myelogenous leukemia, BCR-ABL1 positive 2016-03-10 no assertion provided literature only
Institute of Medical Sciences, Banaras Hindu University RCV001255636 SCV001432197 pathogenic Lip and oral cavity carcinoma 2019-04-30 no assertion criteria provided research

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