ClinVar Miner

Submissions for variant NC_000020.10:g.(?_35521335)_(35580046_?)del

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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 RCV001946896 SCV002238653 pathogenic Aicardi-Goutieres syndrome 5 2021-09-16 criteria provided, single submitter clinical testing

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