ClinVar Miner

Submissions for variant NM_001401501.2(MUC16):c.38199C>T (p.Ser12733=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003936748 SCV004748882 likely benign MUC16-related disorder 2019-09-26 criteria provided, single submitter 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).
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University RCV004011251 SCV004046775 likely pathogenic Ovarian cancer no assertion criteria provided clinical testing

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