ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6472+13_6472+14insT

dbSNP: rs541980281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000285971 SCV000340202 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001801705 SCV002048278 uncertain significance Autosomal recessive nonsyndromic hearing loss 28 2020-11-18 criteria provided, single submitter clinical testing The TRIOBP c.6472+13_6472+14insT; p.? variant (rs541980281), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 286671). This variant is found in the general population with an allele frequency of 0.036% (84/233,928 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic splice site. Due to limited information, the clinical significance of this variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519248 SCV002946291 likely benign not provided 2023-10-05 criteria provided, single submitter clinical testing

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