ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)

gnomAD frequency: 0.00006  dbSNP: rs766572560
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369696 SCV000341809 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
Invitae RCV000369696 SCV001033849 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000369696 SCV001790000 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785546 SCV002027151 likely benign Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001275105 SCV002027162 likely benign Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910006 SCV004721498 likely benign SLC26A4-related condition 2020-01-07 criteria provided, single submitter 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).
Natera, Inc. RCV001275105 SCV001459867 likely benign Pendred syndrome 2020-06-05 no assertion criteria provided clinical testing

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