ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.2856C>T (p.His952=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003118618 SCV003786819 likely benign not provided 2021-12-19 criteria provided, single submitter clinical testing
GeneDx RCV003118618 SCV005375748 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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