Submissions for variant NM_057176.3(BSND):c.63C>T (p.Leu21=)

gnomAD frequency: 0.00079  dbSNP: rs141611486

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039820	SCV000063511	benign	not specified	2013-06-02	criteria provided, single submitter	clinical testing	The Leu21Leu variant in BSND: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2% (4/196) of Tuscan c hromosomes by the 1000 Genome Project as well as in 0.1% (10/8600) of European A merican chromosomes and 0.1% (4/4406) of African American chromosomes by the NHL BI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs14161148 6).
PreventionGenetics, part of Exact Sciences	RCV000039820	SCV000315325	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000328993	SCV000358177	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.
GeneDx	RCV000883545	SCV000721648	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000883545	SCV001026858	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000883545	SCV005041405	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	BSND: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000883545	SCV005286606	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001831692	SCV002092688	likely benign	Bartter syndrome	2019-10-23	no assertion criteria provided	clinical testing