ClinVar Miner

Submissions for variant NM_017637.6(BNC2):c.2860G>A (p.Ala954Thr)

dbSNP: rs763487720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Ulm RCV001089671 SCV001197275 benign Amelogenesis imperfecta 2019-04-10 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004751878 SCV005363321 likely benign BNC2-related disorder 2024-08-27 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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