ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.90C>G (p.Leu30=) (rs566715839)

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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 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).
Invitae RCV000883697 SCV001027024 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing

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