ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.7158+5G>A

dbSNP: rs368828708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756618 SCV001986124 uncertain significance not provided 2020-05-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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.; This variant is associated with the following publications: (PMID: 25666757)

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