ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.7722G>C (p.Leu2574=)

gnomAD frequency: 0.00004  dbSNP: rs746257631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767426 SCV001998248 uncertain significance not provided 2019-11-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001767426 SCV004625240 likely benign not provided 2022-12-12 criteria provided, single submitter clinical testing

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