ClinVar Miner

Submissions for variant NM_017637.6(BNC2):c.1240C>G (p.Leu414Val)

gnomAD frequency: 0.00784  dbSNP: rs148873573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002055265 SCV002403156 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002055265 SCV004161931 benign not provided 2022-08-01 criteria provided, single submitter clinical testing BNC2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003935086 SCV004754147 benign BNC2-related condition 2019-06-26 criteria provided, single submitter 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).
Centre for molecular medicine, Karolinska Institutet RCV000190256 SCV000143797 not provided Hypotension no assertion provided not provided

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