ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.177+11G>A (rs78904893)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039816 SCV000063507 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 177+11G>A in Intron 01 of BSND: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and has been identified in 14.5% (543/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs78904893).
PreventionGenetics,PreventionGenetics RCV000039816 SCV000315323 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039816 SCV000341558 benign not specified 2016-04-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350902 SCV000358180 benign Bartter disease type 4a 2018-01-12 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.

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