ClinVar Miner

Submissions for variant NM_000558.3(HBA1):c.187_189delGTG (p.Val63del) (rs35672478)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017221 SCV000037493 other HEMOGLOBIN AGHIA SOPHIA 2016-07-20 no assertion criteria provided literature only
OMIM RCV000022601 SCV000043890 pathogenic Hemoglobin H disease, nondeletional 1999-11-01 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078389 SCV001244591 pathogenic alpha Thalassemia 2019-11-25 no assertion criteria provided curation

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