ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.6134-4C>T

gnomAD frequency: 0.00005  dbSNP: rs768569958
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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 RCV002474321 SCV002770847 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002474321 SCV004510415 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing

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