ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.276A>G (p.Thr92=)

gnomAD frequency: 0.00123  dbSNP: rs148092520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499793 SCV000594405 likely benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000896124 SCV001040201 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000896124 SCV005224977 likely benign not provided criteria provided, single submitter not provided

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