ClinVar Miner

Submissions for variant NM_000184.3(HBG2):c.151TCTGCC[3] (p.51SA[3])

dbSNP: rs1554922455
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480534 SCV000572741 likely pathogenic not provided 2017-01-11 criteria provided, single submitter clinical testing The c.157_162dupTCTGCC variant in the HBG2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.157_162dupTCTGCC variant causes an in-frame duplication of two amino acids (Serine and Alanine), denoted p.Ser53_Ala54dup. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.157_162dupTCTGCC as a likely pathogenic variant.

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