ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-28G>A

gnomAD frequency: 0.00003  dbSNP: rs771736852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000578 SCV001157547 likely benign not specified 2018-09-25 criteria provided, single submitter clinical testing The HBB c.316-28G>A variant (rs771736852), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.002% (6/276,372 alleles) in the Genome Aggregation Database. This is an intronic 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 c.316-28G>A variant is considered to be likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001428014 SCV001630706 likely benign not provided 2023-12-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001000578 SCV003929042 likely benign not specified 2024-12-12 criteria provided, single submitter clinical testing

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