ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.1042-13_1042-10del

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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 RCV005060605 SCV005693790 likely benign Glycogen storage disease IXd 2024-03-07 criteria provided, single submitter clinical testing

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