ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1545-7del

gnomAD frequency: 0.00003  dbSNP: rs727503427
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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, Mass General Brigham Personalized Medicine RCV000151901 SCV000200408 uncertain significance not specified 2014-08-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 1545-7delC vari ant in SLC26A4 has not been previously reported in individuals with hearing loss or in large population studies. This variant is located in the 3' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. In summary, the clin ical significance of the 1547-7delC variant is uncertain.
Invitae RCV000931069 SCV001076732 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000931069 SCV001981884 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing

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