ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2274C>T (p.Phe758=)

gnomAD frequency: 0.00011  dbSNP: rs149039619
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001498812 SCV001703565 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405690 SCV004124870 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7

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