ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.741-18T>A

gnomAD frequency: 0.74689  dbSNP: rs3780194
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511653 SCV001718931 benign Neu-Laxova syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001638101 SCV001850917 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789395 SCV002031981 benign PSAT deficiency 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511653 SCV002031982 benign Neu-Laxova syndrome 2 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638101 SCV005269137 benign not provided criteria provided, single submitter not provided

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