ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.588C>T (p.Ser196=)

gnomAD frequency: 0.00004  dbSNP: rs755420480
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959730 SCV001106652 likely benign Phenylketonuria 2023-10-18 criteria provided, single submitter clinical testing

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