ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.315+74T>G

gnomAD frequency: 0.44189  dbSNP: rs7480526
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000860762 SCV000603890 benign not provided 2020-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860762 SCV001000906 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001078265 SCV001749122 benign beta Thalassemia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000860762 SCV001883507 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000860762 SCV005323384 benign not provided criteria provided, single submitter not provided
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078265 SCV001244408 benign beta Thalassemia 2019-11-25 no assertion criteria provided curation
Natera, Inc. RCV001078265 SCV001453774 benign beta Thalassemia 2020-09-16 no assertion criteria provided clinical testing

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