ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.347A>G (p.Asp116Gly)

gnomAD frequency: 0.00001  dbSNP: rs104894279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000502112 SCV000596632 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2016-06-29 criteria provided, single submitter clinical testing
OMIM RCV000000512 SCV000020661 pathogenic Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency 1999-01-01 no assertion criteria provided literature only
Counsyl RCV000502112 SCV000800536 uncertain significance 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2017-05-19 no assertion criteria provided clinical testing

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