ClinVar Miner

Submissions for variant NM_017637.6(BNC2):c.1002A>G (p.Pro334=)

dbSNP: rs483353010
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003421990 SCV004161932 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing BNC2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003925101 SCV004755260 likely benign BNC2-related condition 2019-06-21 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).
Centre for molecular medicine, Karolinska Institutet RCV000190254 SCV000143795 not provided Hypotension no assertion provided not provided

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