ClinVar Miner

Submissions for variant NM_198999.3(SLC26A5):c.78G>A (p.Pro26=)

gnomAD frequency: 0.00117  dbSNP: rs141436712
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Total submissions: 3
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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 RCV000151915 SCV000200430 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro26Pro in Exon 03 of SLC26A5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.4% (15/3736) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141436712).
GeneDx RCV000827660 SCV000969318 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000827660 SCV002403953 benign not provided 2023-10-03 criteria provided, single submitter clinical testing

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