ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1120A>G (p.Ile374Val)

dbSNP: rs769076484
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001279859 SCV002780533 uncertain significance Phenylketonuria 2022-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279859 SCV001466992 uncertain significance Phenylketonuria 2020-04-17 no assertion criteria provided clinical testing

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