ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.75G>C (p.Pro25=) (rs570668954)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600787 SCV000731695 likely benign not specified 2017-07-11 criteria provided, single submitter clinical testing p.Pro25Pro in exon 2 of SLC26A4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/24246 South Asi an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org/; dbSNP rs570668954).
Invitae RCV001503405 SCV001708260 likely benign not provided 2020-08-30 criteria provided, single submitter clinical testing

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