ClinVar Miner

Submissions for variant NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys)

gnomAD frequency: 0.00577  dbSNP: rs115847686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147826 SCV000195300 benign not specified 2017-03-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224883 SCV000281104 likely benign not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000224883 SCV000523084 benign not provided 2018-09-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000224883 SCV000616222 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000224883 SCV001118707 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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