ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.257G>C (p.Arg86Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795747 SCV005417945 likely pathogenic Phenylketonuria criteria provided, single submitter clinical testing RHHWW

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