ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.17_18del (p.Pro6fs) (rs34889882)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000586913 SCV000799824 pathogenic beta Thalassemia 2018-05-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586913 SCV000697089 pathogenic beta Thalassemia 2017-06-06 criteria provided, single submitter clinical testing Variant summary: The HBB c.17_18delCT is a frame-shift variant resulting in termination of translation at codon 23, which is predicted to cause either a truncated or absent HBB protein through non-sense mediated decay which is a commonly known mechanism for BTHAL. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Leu29fs). This variant is found in 1/121340 control chromosomes from ExAC at a frequency of 0.0000082, which does not exceed the maximal expected frequency of a pathogenic allele (0.0111803) in this gene. This variant has been commonly identified in beta-thalassemia patients in both compound heterozygous and homozygous states. It is also reported as one of the common mutations in Middle Eastern countries (Lahiry_2008). Taken together, this variant has been classified as a disease variant/pathogenic.
OMIM RCV000016678 SCV000036948 pathogenic beta^0^ Thalassemia 1989-01-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506399 SCV000601252 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing

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