Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825739 | SCV000967197 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Leu1032Leu in exon 37 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.03% (3/9744) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs372423505). |
Invitae | RCV000944211 | SCV001090176 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274590 | SCV001458849 | likely benign | Autosomal dominant Alport syndrome | 2020-04-24 | no assertion criteria provided | clinical testing |