ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.297T>G (p.Ala99=)

gnomAD frequency: 0.62693  dbSNP: rs3739474
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000402103 SCV000480847 benign PSAT deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522557 SCV001732129 benign Neu-Laxova syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000402103 SCV002031977 benign PSAT deficiency 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522557 SCV002031978 benign Neu-Laxova syndrome 2 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712770 SCV005266946 benign not provided criteria provided, single submitter not provided

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