ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.3651C>T (p.Ala1217=)

gnomAD frequency: 0.00008  dbSNP: rs371519713
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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 RCV000884929 SCV001028335 likely benign not provided 2024-06-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279608 SCV002566758 uncertain significance Connective tissue disorder 2020-08-10 criteria provided, single submitter clinical testing

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