ClinVar Miner

Submissions for variant NC_000011.10:g.5254939G>A

gnomAD frequency: 0.20740  dbSNP: rs7482144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811143 SCV002050256 benign not provided 2023-08-09 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004595883 SCV005090884 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811143 SCV005323400 benign not provided criteria provided, single submitter not provided
OMIM RCV001814962 SCV000036392 uncertain significance Hereditary persistence of fetal hemoglobin 2010-12-01 no assertion criteria provided literature only

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