ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.127G>A (p.Val43Ile)

gnomAD frequency: 0.04587  dbSNP: rs34561376
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000039815 SCV000063506 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val43Ile in Exon 01 of BSND: This variant is not expected to have clinical signi ficance because it has been identified in 12.4% (462/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /; dbSNP rs34561376).
PreventionGenetics,PreventionGenetics RCV000039815 SCV000315322 benign not specified criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000039815 SCV000340166 benign not specified 2016-03-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000288895 SCV000358179 benign Bartter disease type 4a 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000039815 SCV000730626 benign not specified 2017-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
SIB Swiss Institute of Bioinformatics RCV000039815 SCV000803579 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Athena Diagnostics Inc RCV000710755 SCV000841055 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV000710755 SCV001728280 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000039815 SCV002051027 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273325 SCV001456270 benign Bartter syndrome 2020-09-16 no assertion criteria provided clinical testing

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