ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.532G>A (p.Ala178Thr) (rs115585711)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148560 SCV000190273 uncertain significance Piebaldism 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Invitae RCV001079840 SCV000283944 benign Gastrointestinal stromal tumor 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514124 SCV000609961 likely benign not provided 2017-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023936 SCV001185880 benign Hereditary cancer-predisposing syndrome 2018-12-14 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

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