ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.2361T>C (p.Asn787=) (rs140912933)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230252 SCV000283926 benign Gastrointestinal stromal tumor 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015292 SCV001176111 benign Hereditary cancer-predisposing syndrome 2018-10-02 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
ITMI RCV000121317 SCV000085488 not provided not specified 2013-09-19 no assertion provided reference population

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