ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.171C>T (p.Gly57=) (rs193922551)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029965 SCV000052620 likely benign beta Thalassemia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000078 SCV000883981 likely benign not specified 2018-09-19 criteria provided, single submitter clinical testing The HBB c.171C>T; Gly56Gly variant (rs193922551), to our knowledge, is not reported in the medical literature but is reported as likely benign in ClinVar (Variation ID: 36300). This variant is found in the East Asian population with an allele frequency of 0.02% (4/18,860 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Based on available information, the Gly56Gly variant is considered to be likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756234 SCV001134212 likely benign not provided 2019-06-25 criteria provided, single submitter clinical testing

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