ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.795G>A (p.Ala265=)

gnomAD frequency: 0.00034  dbSNP: rs184256039
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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 RCV000968438 SCV001115890 likely benign Neu-Laxova syndrome 2 2025-01-06 criteria provided, single submitter clinical testing

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