ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.994-5T>A

gnomAD frequency: 0.00203  dbSNP: rs145795023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000923571 SCV001069054 benign not provided 2023-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000923571 SCV001792683 uncertain significance not provided 2018-12-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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.
PreventionGenetics, part of Exact Sciences RCV003960423 SCV004766834 likely benign SNX14-related disorder 2022-05-09 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).

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