ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.400G>T (p.Glu134Ter)

dbSNP: rs779681799
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671217 SCV000796170 uncertain significance 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2017-12-04 criteria provided, single submitter clinical testing
Invitae RCV000671217 SCV001575567 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-07-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000671217 SCV002014496 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671217 SCV002078518 likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2021-08-18 no assertion criteria provided clinical testing

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