ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1413A>G

gnomAD frequency: 0.00005  dbSNP: rs57670957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698026 SCV000725815 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864090 SCV001004845 likely benign Loeys-Dietz syndrome 2 2023-11-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698026 SCV005218190 likely benign not provided criteria provided, single submitter not provided

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