ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.223G>C (p.Asp75His) (rs28928875)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000417219 SCV000503056 pathogenic alpha Thalassemia 2016-12-29 no assertion criteria provided literature only
OMIM RCV000017028 SCV000037300 other HEMOGLOBIN G (TAICHUNG) 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017029 SCV000037301 other HEMOGLOBIN Q 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017030 SCV000037302 other HEMOGLOBIN Q (THAILAND) 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017031 SCV000037303 other HEMOGLOBIN MAHIDOL 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017032 SCV000037304 other HEMOGLOBIN ASABARA 2018-05-10 no assertion criteria provided literature only
OMIM RCV000017033 SCV000037305 other HEMOGLOBIN KURASHIKI 2018-05-10 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505861 SCV000601186 uncertain significance not specified 2017-01-05 criteria provided, single submitter clinical testing

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