ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.122-9C>G

gnomAD frequency: 0.00004  dbSNP: rs1238498437
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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 RCV002174750 SCV002341207 likely benign Neu-Laxova syndrome 2 2024-05-09 criteria provided, single submitter clinical testing

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