ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.927+17C>G

gnomAD frequency: 0.00288  dbSNP: rs143558058
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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
GeneDx RCV001720086 SCV000520336 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515025 SCV001723010 benign Glycogen storage disease IXc 2024-01-31 criteria provided, single submitter clinical testing

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