ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.487A>C (p.Arg163=)

gnomAD frequency: 0.00065  dbSNP: rs146546977
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248608 SCV000314885 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000248608 SCV002070032 likely benign not specified 2020-01-16 criteria provided, single submitter clinical testing
Invitae RCV002058370 SCV002443217 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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