ClinVar Miner

Submissions for variant NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)

gnomAD frequency: 0.35682  dbSNP: rs1061234
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455125 SCV000539270 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227037 SCV002049608 benign Hereditary persistence of fetal hemoglobin 2022-04-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717905 SCV005323399 benign not provided criteria provided, single submitter not provided
OMIM RCV000016145 SCV000036413 benign HBG1 POLYMORPHISM 1985-01-01 no assertion criteria provided literature only
OMIM RCV000030904 SCV000036430 other HEMOGLOBIN F (SARDINIA) 2021-03-25 no assertion criteria provided literature only

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