ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-272G>T

dbSNP: rs773343845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473536 SCV001677690 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078272 SCV001244420 benign beta Thalassemia 2019-11-25 no assertion criteria provided curation

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