ClinVar Miner

Submissions for variant NM_014813.1(LRIG2):c.1799-2_1799-1delAG

dbSNP: rs1570764426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824994 SCV000966179 likely pathogenic Urofacial syndrome 2 2018-09-25 criteria provided, single submitter clinical testing

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