ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)

gnomAD frequency: 0.00076  dbSNP: rs150764699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425320 SCV000525472 likely benign not specified 2018-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000924481 SCV001069995 benign Glycogen storage disease IXa1 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000924481 SCV002797469 likely benign Glycogen storage disease IXa1 2021-10-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703960 SCV005209115 likely benign not provided criteria provided, single submitter not provided

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