ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.163C>G (p.Gln55Glu)

dbSNP: rs35317336
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800309 SCV002047274 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001800309 SCV002048657 benign not provided 2021-12-15 criteria provided, single submitter clinical testing
OMIM RCV000017109 SCV000037381 other HEMOGLOBIN MEXICO 2016-07-20 no assertion criteria provided literature only
OMIM RCV000017110 SCV000037382 other HEMOGLOBIN J 2016-07-20 no assertion criteria provided literature only
OMIM RCV000017111 SCV000037383 other HEMOGLOBIN J (MEXICO) 2016-07-20 no assertion criteria provided literature only
OMIM RCV000017112 SCV000037384 other HEMOGLOBIN J (PARIS 2) 2016-07-20 no assertion criteria provided literature only
OMIM RCV000017113 SCV000037385 other HEMOGLOBIN UPPSALA 2016-07-20 no assertion criteria provided literature only

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