ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-8T>G

dbSNP: rs34793594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556030 SCV004294095 likely benign not provided 2023-06-23 criteria provided, single submitter clinical testing
OMIM RCV000016711 SCV000036981 pathogenic Beta-plus-thalassemia 1988-06-10 no assertion criteria provided literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078323 SCV001244492 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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