ClinVar Miner

Submissions for variant NM_004285.4(H6PD):c.745+88T>A

gnomAD frequency: 0.23253  dbSNP: rs12032814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171451 SCV000221650 likely benign not specified 2016-09-28 criteria provided, single submitter research
Mendelics RCV000986230 SCV001135162 benign Cortisone reductase deficiency 1 2019-05-28 criteria provided, single submitter clinical testing

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