ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser)

gnomAD frequency: 0.00726  dbSNP: rs141731085
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000876013 SCV000526121 benign not provided 2018-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876013 SCV001018517 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502541 SCV002813722 likely benign Mitochondrial DNA deletion syndrome with progressive myopathy; Seckel syndrome 8 2022-05-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000876013 SCV005318854 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003932627 SCV004755555 benign DNA2-related disorder 2019-06-14 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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