ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1158C>T (p.Asn386=)

gnomAD frequency: 0.00001  dbSNP: rs752276168
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002117703 SCV002404921 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003408128 SCV004124878 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7

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