ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1907A>G

gnomAD frequency: 0.00001  dbSNP: rs372248802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037744 SCV000061406 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Glu496Glu in exon 4 of TMPO: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). Glu496Glu in exon 4 of TMPO (allele frequency = 1/7020) **
Ambry Genetics RCV000037744 SCV002700862 likely benign not specified 2022-10-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513484 SCV003456432 likely benign Loeys-Dietz syndrome 2 2022-03-16 criteria provided, single submitter clinical testing

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