ClinVar Miner

Submissions for variant NC_000012.12:g.6867524A>G

gnomAD frequency: 0.09809  dbSNP: rs1800200
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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 RCV000327732 SCV000483393 benign Triosephosphate isomerase deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000327732 SCV001472333 benign Triosephosphate isomerase deficiency 2024-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001643127 SCV001856417 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 8571957, 10910933, 10575546)
Breakthrough Genomics, Breakthrough Genomics RCV001643127 SCV005237399 benign not provided criteria provided, single submitter not provided

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