ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys)

gnomAD frequency: 0.00459  dbSNP: rs181679245
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514239 SCV000610486 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000514239 SCV000976628 benign not provided 2021-01-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23859901)
Invitae RCV000514239 SCV001012816 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514239 SCV001147950 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DNA2: BP4, BS2
Genetic Services Laboratory, University of Chicago RCV001821442 SCV002071141 likely benign not specified 2020-10-27 criteria provided, single submitter clinical testing

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