ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1995A>C (p.Ile665=)

gnomAD frequency: 0.00015  dbSNP: rs185493402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000944262 SCV001090228 likely benign not provided 2024-03-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832173 SCV002080015 likely benign Pendred syndrome 2021-02-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004738095 SCV005353677 likely benign SLC26A4-related disorder 2024-03-12 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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