ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1298G>A

gnomAD frequency: 0.00016  dbSNP: rs370939324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704720 SCV000714571 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865564 SCV001006554 benign Loeys-Dietz syndrome 2 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024906 SCV002682632 likely benign not specified 2018-03-06 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.

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