ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.681G>C (p.Val227=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003441105 SCV004166680 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing PHKA2: BP4

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