ClinVar Miner

Submissions for variant NC_000019.10:g.34364916G>A

gnomAD frequency: 0.00139  dbSNP: rs549433538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227311 SCV002506129 uncertain significance Hemolytic anemia due to glucophosphate isomerase deficiency 2022-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756380 SCV005351061 likely benign GPI-related disorder 2024-09-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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