ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3111+14G>A

dbSNP: rs759056537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002111639 SCV002390976 likely benign Glycogen storage disease IXa1 2021-08-03 criteria provided, single submitter clinical testing

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