ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3354C>T (p.Ser1118=)

gnomAD frequency: 0.00004  dbSNP: rs764381126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994111 SCV001147433 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769328 SCV004611121 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-09-03 criteria provided, single submitter clinical testing

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