ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-23A>G

dbSNP: rs1010004981
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586372 SCV000697100 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing Variant summary: The HBB c.-23A>G variant involves the alteration of a non-conserved nucleotide. One in silico tool predicts a benign outcome for this variant. This variant is absent in 120774 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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