ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.762T>C (p.Val254=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003587243 SCV004286297 likely benign Neu-Laxova syndrome 2 2023-07-22 criteria provided, single submitter clinical testing

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