ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.90C>G (p.Leu30=)

gnomAD frequency: 0.00013  dbSNP: rs566715839
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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 RCV000613400 SCV000731285 likely benign not specified 2016-12-22 criteria provided, single submitter clinical testing p.Leu30Leu 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 0.2% (1/544) of L atino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs566715839).
Labcorp Genetics (formerly Invitae), Labcorp RCV000883697 SCV001027024 likely benign not provided 2024-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737893 SCV005354078 likely benign SLC26A4-related disorder 2024-03-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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