Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215756 | SCV000270501 | likely benign | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | p.Pro676Pro in exon 2 of MYO15A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.3% (1/374) of S outh Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs577023485). |
Illumina Laboratory Services, |
RCV000320319 | SCV000401109 | likely benign | Autosomal recessive nonsyndromic hearing loss 3 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000953370 | SCV000718169 | benign | not provided | 2019-09-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000953370 | SCV001099939 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000320319 | SCV001471976 | benign | Autosomal recessive nonsyndromic hearing loss 3 | 2022-09-12 | criteria provided, single submitter | clinical testing |