ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1559T>C

gnomAD frequency: 0.00001  dbSNP: rs760459470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002178419 SCV002471351 likely benign Loeys-Dietz syndrome 2 2021-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047074 SCV003854763 likely benign not specified 2023-02-16 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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