ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1935-19G>A

gnomAD frequency: 0.00101  dbSNP: rs200651742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433139 SCV001635924 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001433139 SCV002798821 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339640 SCV004050352 likely benign Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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