ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=)

gnomAD frequency: 0.00053  dbSNP: rs144122107
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898661 SCV001042883 likely benign not provided 2024-08-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000898661 SCV001471245 likely benign not provided 2020-02-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000898661 SCV003809441 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing

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