ClinVar Miner

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

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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 RCV000756241 SCV000601294 uncertain significance not provided 2018-10-03 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
Illumina Clinical Services Laboratory,Illumina RCV001104053 SCV001260880 uncertain significance beta Thalassemia 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001107684 SCV001264860 uncertain significance Fetal hemoglobin quantitative trait locus 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001107685 SCV001264861 uncertain significance Hb SS disease 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001107686 SCV001264862 uncertain significance Hemoglobin E 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000016370 SCV000036638 other HEMOGLOBIN HAMILTON 2017-12-12 no assertion criteria provided literature only

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