ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.546G>A (p.Leu182=)

dbSNP: rs772396082
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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 RCV002541522 SCV001070621 likely benign Neu-Laxova syndrome 2 2023-11-27 criteria provided, single submitter clinical testing

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