ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.776C>G (p.Ala259Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003494061 SCV004242425 uncertain significance Phenylketonuria 2024-01-05 criteria provided, single submitter clinical testing

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