ClinVar Miner

Submissions for variant NM_000559.2(HBG1):c.227C>T (p.Thr76Ile) (rs1061234)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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
OMIM RCV000016145 SCV000036413 benign HBG1 POLYMORPHISM 1985-01-01 no assertion criteria provided literature only
OMIM RCV000030904 SCV000036430 other HEMOGLOBIN F (SARDINIA) 2011-07-15 no assertion criteria provided literature only

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