ClinVar Miner

Submissions for variant NM_001401501.2(MUC16):c.7075A>G (p.Ile2359Val)

gnomAD frequency: 0.00019  dbSNP: rs200019597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201371 SCV000239967 benign Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003907671 SCV004725759 likely benign MUC16-related disorder 2019-08-12 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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