ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.771C>T (p.Ser257=)

gnomAD frequency: 0.00002  dbSNP: rs368596210
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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 RCV002094165 SCV002432430 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-10-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711840 SCV005262232 likely benign not provided criteria provided, single submitter not provided

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