ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1990+9G>A

gnomAD frequency: 0.00007  dbSNP: rs757680205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526202 SCV000630450 likely benign Gastrointestinal stromal tumor 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748816 SCV005342402 likely benign KIT-related disorder 2024-04-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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