ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.441+15C>T

gnomAD frequency: 0.00002  dbSNP: rs187133779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119097 SCV002443001 likely benign Phenylketonuria 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002119097 SCV002809661 likely benign Phenylketonuria 2022-05-16 criteria provided, single submitter clinical testing

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