ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1298+20C>A

gnomAD frequency: 0.13128  dbSNP: rs67114979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001515820 SCV001723978 benign Dyskeratosis congenita, autosomal dominant 6 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001638107 SCV001848903 benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001515820 SCV002524360 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487351 SCV004233620 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 32% of patients studied by a panel of primary immunodeficiencies. Number of patients: 30. Only high quality variants are reported.

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