ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.624C>T (p.Ser208=)

gnomAD frequency: 0.00002  dbSNP: rs755808579
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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 RCV001499667 SCV001704434 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597915 SCV005092063 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7

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