ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1630C>A (p.Arg544=)

dbSNP: rs768943773
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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 RCV001992268 SCV002282572 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-05-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003408062 SCV004124874 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing ADAR: PM2, BP4

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