ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.279+11G>C

gnomAD frequency: 0.00001  dbSNP: rs772520813
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001973087 SCV002254507 likely benign Loeys-Dietz syndrome 2 2021-05-13 criteria provided, single submitter clinical testing

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