ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=)

gnomAD frequency: 0.00084  dbSNP: rs111558823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902148 SCV001046555 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000902148 SCV001812337 likely benign not provided 2021-04-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000902148 SCV003800338 likely benign not provided 2024-06-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000902148 SCV003809243 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541892 SCV004784951 likely benign HSPG2-related disorder 2019-08-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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