ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.371C>T (p.Thr124Ile)

dbSNP: rs33935383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506551 SCV000603939 uncertain significance not specified 2016-12-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003476898 SCV004219884 uncertain significance not provided 2023-03-18 criteria provided, single submitter clinical testing The HBB c.371C>T (p.Thr124Ile) variant (also known as Hb Villejuif) is described as an asymptomatic variant in heterozygous carriers with normal stability. This silent variant was first reported in an individual who coincidentally had polycythemia vera with the red blood cells showing normal oxygen binding properties (PMID: 2816924 (1989)). Later, the variant was observed in a family who had normal hemoglobin analysis results with a slight increase in Hb A2 concentration (PMID: 11300351 (2001)). Based on the available information, we are unable to determine the clinical significance of this variant.
OMIM RCV000016637 SCV000036906 other HEMOGLOBIN VILLEJUIF 2017-12-12 no assertion criteria provided literature only
Natera, Inc. RCV001277082 SCV001463830 uncertain significance beta Thalassemia 2020-09-16 no assertion criteria provided clinical testing

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