ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.390G>C (p.Thr130=)

gnomAD frequency: 0.00018  dbSNP: rs1143559
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993527 SCV001146571 benign not provided 2018-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000993527 SCV001755893 benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820913 SCV002068213 benign not specified 2019-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000993527 SCV002344886 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing

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