ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.328G>C (p.Val110Leu) (rs33969677)

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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 RCV001284154 SCV001469780 pathogenic not provided 2019-09-04 criteria provided, single submitter clinical testing Found in at least one patient with expected phenotype for this gene. Predicted to have a tolerated effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function. Segregation with disease in affected and unaffected individuals from multiple families.
OMIM RCV000016428 SCV000036696 other HEMOGLOBIN JOHNSTOWN 2017-12-12 no assertion criteria provided literature only

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