ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.174A>G (p.Thr58=)

gnomAD frequency: 0.00009  dbSNP: rs745627441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908106 SCV001052847 likely benign 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2024-09-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000908106 SCV001457206 uncertain significance 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2020-04-17 no assertion criteria provided clinical testing

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