ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1195G>A (p.Val399Ile) (rs143707288)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231519 SCV000283898 likely benign Gastrointestinal stromal tumor 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010178 SCV001170335 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-27 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000231519 SCV001305987 uncertain significance 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 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.
Illumina Clinical Services Laboratory,Illumina RCV001145325 SCV001305988 uncertain significance 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 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.
Illumina Clinical Services Laboratory,Illumina RCV001149637 SCV001310605 benign Mastocytosis 2017-05-31 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ITMI RCV000121322 SCV000085493 not provided not specified 2013-09-19 no assertion provided reference population
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000231519 SCV000493750 uncertain significance Gastrointestinal stromal tumor 2016-01-27 no assertion criteria provided clinical testing

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