ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.1167+3G>C

dbSNP: rs587776623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543585 SCV001762254 likely pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
OMIM RCV000006182 SCV000026364 pathogenic Bilateral frontoparietal polymicrogyria 2004-03-26 no assertion criteria provided literature only

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