Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155186 | SCV000204872 | benign | not specified | 2015-06-08 | criteria provided, single submitter | clinical testing | Leu46Phe in exon 2 of MYH9: This variant is not expected to have clinical signif icance because it has been identified in 4.5% (295/6600) of Finnish chromosomes including 5 homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs147122501). |
Eurofins Ntd Llc |
RCV000155186 | SCV000227263 | benign | not specified | 2015-05-12 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000286819 | SCV000438492 | benign | MYH9-related disorder | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000339441 | SCV000438493 | likely benign | Autosomal dominant nonsyndromic hearing loss 17 | 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. |
Invitae | RCV000972196 | SCV001119892 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000972196 | SCV001144681 | benign | not provided | 2019-04-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000972196 | SCV001868250 | benign | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30245029, 29090586, 29110756, 25077172, 24130771) |
ARUP Laboratories, |
RCV000972196 | SCV002048702 | benign | not provided | 2021-02-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000972196 | SCV004147814 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | MYH9: BS1 |
Genome |
RCV000509473 | SCV000607103 | not provided | Vitelliform macular dystrophy 1; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000155186 | SCV001958814 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000972196 | SCV001965547 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000155186 | SCV002036353 | benign | not specified | no assertion criteria provided | clinical testing |