ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.393T>C (p.Tyr131=)

gnomAD frequency: 0.00016  dbSNP: rs370268538
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960047 SCV001106994 likely benign Neu-Laxova syndrome 2 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275207 SCV002564053 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing PSAT1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV002275207 SCV005226558 likely benign not provided criteria provided, single submitter not provided

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