ClinVar Miner

Submissions for variant NG_012059.2:g.1_302925del

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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 RCV000735843 SCV000844957 likely pathogenic Alport syndrome 1, X-linked recessive 2018-10-08 no assertion criteria provided clinical testing The observed COL4A6 deletion was not observed in the 1000 Genomes and ExAC databases. The in silico prediction of given variant is damaging by MutationTaster2. COL4A6 deletion was observed along with COL4A5 deletion causing hemizygous contiguous gene deletion.

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