ClinVar Miner

Submissions for variant NG_011977.1:g.1_264622del

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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 RCV000735826 SCV000844974 likely pathogenic Alport syndrome 1, X-linked recessive 2018-10-08 no assertion criteria provided clinical testing The observed variant c.0 (COL4A5 gene deletion) was not observed in the 1000 Genomes and ExAC databases. The in silico prediction of given variant is damaging by MutationTaster2.

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