Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000021452 | SCV000267267 | uncertain significance | Alport syndrome 1, X-linked recessive | 2016-03-18 | criteria provided, single submitter | reference population | |
EGL Genetic Diagnostics, |
RCV000598479 | SCV000700762 | benign | not specified | 2016-12-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000598479 | SCV000732049 | benign | not specified | 2017-12-21 | criteria provided, single submitter | clinical testing | p.Gly953Val in exon 33 of COL4A5: This variant is not expected to have clinica l significance, because it has been identified in 3.7% (513/13865) of East Asian chromosomes including 7 homozygotes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs104886203, rs78972735). Although it has been reported in several individuals with Alport syndrome or hearing loss, 2 individuals with Alport syndrome had another COL4A5 variant in cis with this va riant, and one individual was reported to have polycystic kidney disease with no additional clinical features of Alport syndrome (Knebelmann 1996, Lennon 2015, Miao 2017, Miyagawa 2013, Nishio 2015, Randles 2016, Tan 2010). In summary, it s frequency is too high to be causative for Alport syndrome. ACMG/AMP criteria a pplied: BA1 |
Athena Diagnostics Inc | RCV000710871 | SCV000841178 | likely benign | not provided | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000710871 | SCV001021332 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000021452 | SCV001141995 | uncertain significance | Alport syndrome 1, X-linked recessive | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Research and Development, |
RCV000021452 | SCV000042118 | likely benign | Alport syndrome 1, X-linked recessive | 2018-04-13 | no assertion criteria provided | literature only |