ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3978del (p.Gly1327fs) (rs1131692246)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495977 SCV000583510 likely pathogenic Alport syndrome 1, X-linked recessive 2016-10-04 no assertion criteria provided clinical testing The observed variant is not reported in 1000 genomse and ExAC databases. The in silico prediction of the variant is disease causing by Mutation Taster2. Patient, born of a non-consanguineous marriage, was suspected to be affected with Alport syndrome. His serum creatinine was found to be 1.36.

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