ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.642A>G (p.Glu214=)

gnomAD frequency: 0.00002  dbSNP: rs373782868
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500105 SCV001704886 likely benign Phenylketonuria 2024-08-28 criteria provided, single submitter clinical testing

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