ClinVar Miner

Submissions for variant NM_001365068.1(ASTN2):c.2806+26807G>A (rs3747835)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244938 SCV000227409 likely benign not specified 2017-12-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000244938 SCV000311880 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000086966 SCV000491228 likely benign not provided 2021-08-03 criteria provided, single submitter clinical testing Previously reported in one individual with Usher syndrome; however, no second variant in the TRIM32 gene, as would be expected with autosomal recessive inheritance, was detected in this individual (Song et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22025579, 19349376)
Invitae RCV001084393 SCV000552160 likely benign Bardet-Biedl syndrome 2020-11-16 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000626297 SCV000746958 likely pathogenic Bardet-Biedl syndrome 11 2017-12-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086966 SCV001155716 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001166672 SCV001329070 uncertain significance Sarcotubular myopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics Inc RCV000086966 SCV001475698 likely benign not provided 2019-11-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000086966 SCV001714311 uncertain significance not provided 2020-05-21 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086966 SCV000119219 not provided not provided no assertion provided not provided
Clinical Genetics,Academic Medical Center RCV000086966 SCV001921747 uncertain significance not provided no assertion criteria provided clinical testing

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