ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.291C>T (p.Ile97=)

dbSNP: rs2136701670
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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 RCV002137330 SCV002410950 likely benign Phenylketonuria 2023-05-01 criteria provided, single submitter clinical testing

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