ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.210del (p.Arg71fs)

dbSNP: rs2136701994
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806349 SCV002053874 pathogenic Phenylketonuria criteria provided, single submitter clinical testing

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