ClinVar Miner

Submissions for variant NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) (rs28928878)

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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 RCV000756221 SCV000883966 pathogenic not provided 2017-06-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756221 SCV001134179 pathogenic not provided 2019-03-19 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/165308 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Occurs in multiple cases with a recessive pathogenic variant in the same gene. Assessment of experimental evidence suggests this variant results in abnormal protein function.
OMIM RCV000017194 SCV000037466 other HEMOGLOBIN ADANA 2016-07-20 no assertion criteria provided literature only
OMIM RCV000022600 SCV000043889 pathogenic Hemoglobin H disease, nondeletional 2016-07-20 no assertion criteria provided literature only

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