ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1947C>T (p.Asn649=) (rs761139326)

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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 RCV000219440 SCV000270851 likely benign not specified 2016-01-19 criteria provided, single submitter clinical testing p.Asn649Asn in exon 17 of SLC26A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/11530 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs761139326).
Invitae RCV000928105 SCV001073709 likely benign not provided 2020-10-04 criteria provided, single submitter clinical testing

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