ClinVar Miner

Submissions for variant NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=)

gnomAD frequency: 0.00044  dbSNP: rs191358470
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Total submissions: 5
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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 RCV000155847 SCV000205558 likely benign not specified 2013-06-13 criteria provided, single submitter clinical testing Asp524Asp in exon 15 of SLC26A5: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.5% (3/200) of Chi nese chromosomes by the 1000 Genomes Project (dbSNP rs191358470).
PreventionGenetics, part of Exact Sciences RCV000155847 SCV000317091 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000155847 SCV000338975 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000885616 SCV000726183 benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000885616 SCV001029077 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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