ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.691C>T (p.Leu231=)

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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 RCV003623532 SCV004472651 likely benign Glycogen storage disease IXd 2023-08-15 criteria provided, single submitter clinical testing

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