ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.34G>A (p.Val12Ile) (rs33974228)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508011 SCV000601294 uncertain significance not specified 2016-11-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756241 SCV000883990 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing The Hb Hamilton variant (HBB: c.34G>A; Val11Ile) (rs33974228) is not associated with clinical symptoms in heterozygous carriers and demonstrates normal function and relative stability (see HbVar database link and references therein). However, its phenotype when found with other pathogenic globin variants is unknown. Hb Hamilton does not affect the net charge and thus is not detectable by HPLC (see HbVar database link and references therein). This variant is reported in ClinVar (Variation ID: 15189) and is observed in 1:400 live births in the Sardinian population (see HbVar database link and references therein). Based on available information, the clinical significance of this variant is uncertain at this time. REFERENCES HbVar link: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=239
OMIM RCV000016370 SCV000036638 other HEMOGLOBIN HAMILTON 2017-12-12 no assertion criteria provided literature only

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