ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)

gnomAD frequency: 0.00004  dbSNP: rs62517206
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
Invitae RCV000941282 SCV001087165 likely benign Phenylketonuria 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000941282 SCV001455412 uncertain significance Phenylketonuria 2020-04-17 no assertion criteria provided clinical testing

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