ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.2226C>T (p.Cys742=)

gnomAD frequency: 0.00002  dbSNP: rs900156643
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002030932 SCV002313820 likely benign not provided 2024-07-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276990 SCV002566751 uncertain significance Connective tissue disorder 2021-01-22 criteria provided, single submitter clinical testing

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