ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: rs370268538
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960047 SCV001106994 likely benign Neu-Laxova syndrome 2 2023-12-11 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

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