ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.702C>T (p.Asn234=)

gnomAD frequency: 0.00315  dbSNP: rs78181071
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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 RCV000193397 SCV000247198 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000962885 SCV001109996 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000962885 SCV002497392 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000193397 SCV002034480 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000962885 SCV002038321 likely benign not provided no assertion criteria provided clinical testing

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