ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.102C>T (p.Tyr34=) (rs141403253)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215468 SCV000269997 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing p.Tyr34Tyr in exon 1 of BSND: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has also been identified in 67/277094 chrom osomes by the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs141403253).
Eurofins NTD, LLC RCV000725962 SCV000340865 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381206 SCV000358178 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000725962 SCV001071303 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000725962 SCV001768644 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273284 SCV001456157 likely benign Bartter syndrome 2020-01-07 no assertion criteria provided clinical testing

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