ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.*217G>A

gnomAD frequency: 0.10115  dbSNP: rs17084733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296999 SCV000449919 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000296999 SCV001716498 benign Gastrointestinal stromal tumor 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001683390 SCV001896116 benign not provided 2018-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30983504, 21119596, 16365291)
Breakthrough Genomics, Breakthrough Genomics RCV001683390 SCV005257386 likely benign not provided criteria provided, single submitter not provided

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