ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1848C>T (p.Val616=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002576295 SCV002929189 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-07-20 criteria provided, single submitter clinical testing

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