ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.250G>C (p.Gly84Arg)

dbSNP: rs33930385
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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 RCV001283988 SCV001469521 uncertain significance not provided 2019-10-30 criteria provided, single submitter clinical testing
OMIM RCV000016785 SCV000037055 other HEMOGLOBIN MUSKEGON 2017-12-12 no assertion criteria provided literature only

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