ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.199A>G (p.Lys67Glu) (rs34165323)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985737 SCV001134213 likely pathogenic not provided 2018-10-09 criteria provided, single submitter clinical testing Assessment of experimental evidence suggests this variant results in abnormal protein function. Not found in the total gnomAD dataset, and the data is high quality (0/277148 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein.
OMIM RCV000016390 SCV000036658 pathogenic Hemoglobinopathy 1971-04-27 no assertion criteria provided literature only

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