ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.364G>A (p.Val122Met)

gnomAD frequency: 0.00003  dbSNP: rs63751008
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001281703 SCV000601192 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506427 SCV000603868 uncertain significance not specified 2017-01-19 criteria provided, single submitter clinical testing
OMIM RCV000017138 SCV000037410 other HEMOGLOBIN OWARI 2018-05-10 no assertion criteria provided literature only
Natera, Inc. RCV001275689 SCV001461049 uncertain significance alpha Thalassemia 2020-09-16 no assertion criteria provided clinical testing

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