ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.225G>A (p.Pro75=)

gnomAD frequency: 0.00590  dbSNP: rs59027673
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Total submissions: 5
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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 RCV000155817 SCV000205528 benign not specified 2013-07-29 criteria provided, single submitter clinical testing Pro75Pro in exon 1 of TMPO: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.5% (54/3656) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs59027673).
Labcorp Genetics (formerly Invitae), Labcorp RCV000470699 SCV000561636 benign Loeys-Dietz syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000155817 SCV000736195 benign not specified 2015-05-27 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV001682875 SCV001901857 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682875 SCV005234837 benign not provided criteria provided, single submitter not provided

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