ClinVar Miner

Submissions for variant NM_017637.6(BNC2):c.2768C>T (p.Ala923Val)

gnomAD frequency: 0.01981  dbSNP: rs117452684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239272 SCV000297272 benign not specified 2015-08-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000239272 SCV000538422 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 323/13006= 2.4%
Invitae RCV002055269 SCV002494819 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Centre for molecular medicine, Karolinska Institutet RCV000190266 SCV000143807 not provided Hypotension no assertion provided not provided

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