ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.674_675delinsCT (p.Arg225Pro)

dbSNP: rs2139026104
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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 RCV001358684 SCV001554490 pathogenic Autosomal recessive congenital ichthyosis 1 criteria provided, single submitter clinical testing

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