ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV003777339 SCV004028471 likely pathogenic Neu-Laxova syndrome 2 2022-01-10 no assertion criteria provided clinical testing

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