ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.474A>C (p.Ala158=)

gnomAD frequency: 0.00001  dbSNP: rs1434133622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002125700 SCV002449766 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003408146 SCV004124879 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7

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