ClinVar Miner

Submissions for variant NM_003193.5(TBCE):c.833+8G>T

gnomAD frequency: 0.00056  dbSNP: rs372236046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180591 SCV000233062 uncertain significance not provided 2015-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000180591 SCV001055498 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing

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