ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)

gnomAD frequency: 0.99604  dbSNP: rs1466731
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592627 SCV000706231 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521986 SCV001731433 benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548964 SCV001768988 benign Aicardi-Goutieres syndrome 6 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548965 SCV001768989 benign Symmetrical dyschromatosis of extremities 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001521986 SCV002809045 benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-07-08 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000592627 SCV004101269 benign not specified 2023-11-02 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 96. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004714087 SCV005279992 benign not provided criteria provided, single submitter not provided

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