Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218309 | SCV000270121 | likely benign | not specified | 2015-05-22 | criteria provided, single submitter | clinical testing | p.Ala963Ala in exon 22 of DIAPH1: 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. This variant has been identified in 1/6669 6 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org). |
Athena Diagnostics Inc | RCV000534862 | SCV001143788 | likely benign | not provided | 2019-04-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001409920 | SCV001611955 | likely benign | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2021-05-22 | criteria provided, single submitter | clinical testing |