ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-6C>T

dbSNP: rs1554918048
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Total submissions: 3
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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 RCV000588998 SCV000697159 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing Variant summary: The HBB c.93-6C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant while 5/5 splice prediction tools predict the variant not to have a significant impact on splicing. This variant is absent in 120998 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.
Invitae RCV000588998 SCV002474618 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834855 SCV002089236 uncertain significance beta Thalassemia 2020-10-18 no assertion criteria provided clinical testing

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