ClinVar Miner

Submissions for variant NM_198999.3(SLC26A5):c.2079T>C (p.Phe693=)

gnomAD frequency: 0.00005  dbSNP: rs762004358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562217 SCV001784950 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this variant does not alter splicing; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868)
Labcorp Genetics (formerly Invitae), Labcorp RCV001562217 SCV002338720 likely benign not provided 2021-03-24 criteria provided, single submitter clinical testing

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