ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.-12G>C

gnomAD frequency: 0.80020  dbSNP: rs2277148
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348360 SCV000480843 benign PSAT deficiency 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000348360 SCV002031974 benign PSAT deficiency 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789320 SCV002031976 benign Neu-Laxova syndrome 2 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712769 SCV005266939 benign not provided criteria provided, single submitter not provided

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