ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.9078C>T (p.Ile3026=)

gnomAD frequency: 0.00005  dbSNP: rs376461082
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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 RCV002212214 SCV002360603 likely benign not provided 2024-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531306 SCV004726220 likely benign HSPG2-related disorder 2019-06-10 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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