ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=) (rs140918297)

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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, Partners HealthCare Personalized Medicine RCV000151899 SCV000200406 likely benign not specified 2018-08-02 criteria provided, single submitter clinical testing The p.Ile490Ile variant in SLC26A4 is classified as likely benign since it is no t expected to have clinical significance because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and it has bee n identified in 0.29% (101/34404) of Latino chromosomes by the Genome Aggregatio n Database (gnomAD, http://gnomad.broadinstitute.org).
Invitae RCV000948786 SCV001095009 benign not provided 2020-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000948786 SCV001764477 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing

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