ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.1005T>C (p.His335=)

gnomAD frequency: 0.00001  dbSNP: rs200973599
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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 RCV002205321 SCV002365499 likely benign Neu-Laxova syndrome 2 2024-08-03 criteria provided, single submitter clinical testing

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