ClinVar Miner

Submissions for variant NM_016580.4(PCDH12):c.2511del (p.Ser838fs)

dbSNP: rs1596646372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics, Yale University RCV003312998 SCV000987173 pathogenic Diencephalic-mesencephalic junction dysplasia 2018-09-03 no assertion criteria provided literature only
OMIM RCV000855436 SCV000998552 pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1 2019-10-30 no assertion criteria provided literature only

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