ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.25A>G (p.Lys9Glu)

dbSNP: rs33926764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269803 SCV001450074 pathogenic not provided 2020-01-29 criteria provided, single submitter clinical testing
OMIM RCV000016511 SCV000036779 other HEMOGLOBIN N (TIMONE) 2017-12-12 no assertion criteria provided literature only

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