ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.250G>T (p.Gly84Cys)

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 RCV000985740 SCV001134217 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing
OMIM RCV000016618 SCV000036887 other HEMOGLOBIN TA-LI 2017-12-12 no assertion criteria provided literature only

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