ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.597T>C (p.Asp199=)

gnomAD frequency: 0.00048  dbSNP: rs200886926
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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,Mass General Brigham Personalized Medicine RCV000219125 SCV000268813 benign not specified 2015-06-08 criteria provided, single submitter clinical testing p.Asp199Asp in exon 4 of BSND: This variant is not expected to have clinical sig nificance it has been identified in 1.8% (207/11524) of Latino chromosomes by th e Exome Aggregation Consortium (ExAC,; dbSNP rs20 0886926).
Invitae RCV000949646 SCV001095910 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001097213 SCV001253472 benign Bartter disease type 4a 2018-01-13 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 RCV000949646 SCV001842799 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing

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