ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.30C>T (p.Ser10=)

gnomAD frequency: 0.00001  dbSNP: rs769752403
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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 RCV001465483 SCV001669471 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883653 SCV004701786 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7

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