ClinVar Miner

Submissions for variant NM_017637.6(BNC2):c.3017C>T (p.Ala1006Val)

gnomAD frequency: 0.00090  dbSNP: rs143280183
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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 RCV002985303 SCV003291032 benign not provided 2024-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906424 SCV004718136 likely benign BNC2-related disorder 2023-01-10 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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