ClinVar Miner

Submissions for variant NC_000011.10:g.5225416C>T

gnomAD frequency: 0.01596  dbSNP: rs113969885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870817 SCV001012363 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001383 SCV001158585 benign not specified 2018-07-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000870817 SCV005323381 benign not provided criteria provided, single submitter not provided
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078285 SCV001244443 benign beta Thalassemia 2019-11-25 no assertion criteria provided curation

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