ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.1414+5G>A

gnomAD frequency: 0.00110  dbSNP: rs190463258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779823 SCV002015671 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001779823 SCV003262851 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147655 SCV003834875 uncertain significance Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2021-01-04 criteria provided, single submitter clinical testing

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