ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.60C>T (p.Asn20=)

gnomAD frequency: 0.00001  dbSNP: rs63750840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001400263 SCV001602067 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001400263 SCV004219890 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00002 (3/152118 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on HBB mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV001836395 SCV002091597 likely benign beta Thalassemia 2018-10-24 no assertion criteria provided clinical testing

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