ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.238-4G>A

gnomAD frequency: 0.00089  dbSNP: rs782186877
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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 RCV001674816 SCV001890661 benign not provided 2019-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073165 SCV002349004 benign Glycogen storage disease IXd 2023-12-23 criteria provided, single submitter clinical testing

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