ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) (rs1060499654)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000449569 SCV000537702 likely pathogenic Alport syndrome, autosomal recessive 2016-07-11 criteria provided, single submitter clinical testing This heterozygous non-sense variant in the COL4A3 gene (autosomal recessive transmission) is present in a male patient with Alport syndrome who also harbours a missense variant in the same gene (see below). The segregation analysis could not be done, but regarding the clinical presentation of the patient, it is assumed that these two variants are present in compound heterozygosity
Counsyl RCV000449569 SCV000797888 pathogenic Alport syndrome, autosomal recessive 2018-02-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763472 SCV000894254 pathogenic Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 2018-10-31 criteria provided, single submitter clinical testing

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