ClinVar Miner

Submissions for variant NM_022042.4(SLC26A1):c.1549G>A (p.Gly517Arg)

gnomAD frequency: 0.00386  dbSNP: rs187110381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513886 SCV000609663 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513886 SCV001719135 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000513886 SCV005263617 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003925520 SCV004746351 benign SLC26A1-related disorder 2019-05-15 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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