ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.518A>G (p.Asn173Ser)

gnomAD frequency: 0.00048  dbSNP: rs201331183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945806 SCV001091861 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001759671 SCV001986320 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31320745, 31772029, 24262145, 24183309)

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