ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile)

gnomAD frequency: 0.00029  dbSNP: rs200420073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172123 SCV000051064 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002515261 SCV001006073 benign Loeys-Dietz syndrome 2 2022-12-09 criteria provided, single submitter clinical testing

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