ClinVar Miner

Submissions for variant NM_017637.6(BNC2):c.2789A>G (p.Asp930Gly)

gnomAD frequency: 0.00269  dbSNP: rs41268965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955191 SCV001101882 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955191 SCV004161929 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing BNC2: BP4, BS2
Centre for molecular medicine, Karolinska Institutet RCV000190267 SCV000143808 not provided Hypotension no assertion provided not provided
PreventionGenetics, part of Exact Sciences RCV003905088 SCV004720312 benign BNC2-related disorder 2021-08-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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