ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.1507+9G>A

gnomAD frequency: 0.00008  dbSNP: rs371371189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289456 SCV001477278 uncertain significance not provided 2020-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001289456 SCV004681455 likely benign not provided 2024-08-12 criteria provided, single submitter clinical testing

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