ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.2520C>T (p.Asp840=)

gnomAD frequency: 0.00003  dbSNP: rs544565016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001259 SCV001158430 benign not specified 2019-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068769 SCV002436901 likely benign not provided 2021-11-04 criteria provided, single submitter clinical testing
GeneDx RCV002068769 SCV002568472 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis 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.

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