ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.22G>A (p.Glu8Lys)

dbSNP: rs34948328
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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 RCV001800303 SCV002046117 uncertain significance not provided 2020-09-24 criteria provided, single submitter clinical testing
OMIM RCV000016602 SCV000036870 pathogenic not specified 1981-11-21 no assertion criteria provided literature only

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