ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.275T>C (p.Leu92Pro) (rs33917785)

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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 RCV000508375 SCV000603941 pathogenic not specified 2017-01-18 criteria provided, single submitter clinical testing
OMIM RCV000016581 SCV000036850 other HEMOGLOBIN SABINE 2017-12-12 no assertion criteria provided literature only

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