ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe)

gnomAD frequency: 0.00367  dbSNP: rs147096750
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676509 SCV000617975 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25638290)
Labcorp Genetics (formerly Invitae), Labcorp RCV000676509 SCV001012958 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676509 SCV002544424 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing DNA2: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000676509 SCV005228120 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676509 SCV000802293 uncertain significance not provided 2017-10-12 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003915466 SCV004733267 benign DNA2-related disorder 2019-05-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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