Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001656143 | SCV001864810 | benign | not provided | 2019-08-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001658375 | SCV001875545 | benign | Autosomal recessive Alport syndrome | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001658376 | SCV001875656 | benign | Autosomal dominant Alport syndrome | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Molecular Genetics, |
RCV001658375 | SCV002503849 | benign | Autosomal recessive Alport syndrome | 2023-03-30 | criteria provided, single submitter | clinical testing | Population allele frequency is 49% (rs535370229, 117,552/237,550 alleles in gnomAD v2.1). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1 |