ClinVar Miner

Submissions for variant NM_198999.3(SLC26A5):c.571-12dup

dbSNP: rs753273893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001559500 SCV001781737 uncertain significance not provided 2023-08-11 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
Labcorp Genetics (formerly Invitae), Labcorp RCV001559500 SCV002444363 benign not provided 2023-07-07 criteria provided, single submitter clinical testing

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