ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.170G>A (p.Gly57Asp) (rs34439278)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757361 SCV000885554 likely benign not provided 2018-05-10 criteria provided, single submitter clinical testing
OMIM RCV000016405 SCV000036673 benign not specified 2017-12-12 no assertion criteria provided literature only

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