ClinVar Miner

Submissions for variant NM_001159287.1(TPI1):c.66G>A (p.Pro22=)

gnomAD frequency: 0.03488  dbSNP: rs1800201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272650 SCV000483392 likely benign Triosephosphate isomerase deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000272650 SCV001470908 benign Triosephosphate isomerase deficiency 2023-08-31 criteria provided, single submitter clinical testing

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