ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center 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
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
Invitae RCV000233134 SCV000283944 benign Gastrointestinal stroma tumor 2018-01-10 criteria provided, single submitter clinical testing

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