ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.169-42T>A

gnomAD frequency: 0.00001  dbSNP: rs281865459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000106348 SCV000792356 likely benign Phenylketonuria 2017-06-14 criteria provided, single submitter clinical testing
Inserm U 954, Faculté de Médecine de Nancy RCV000106348 SCV000143847 probable-non-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely benign.

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