Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036159 | SCV000059811 | benign | not specified | 2010-09-03 | criteria provided, single submitter | clinical testing | Thr1566Met in exon 35 of MYO7A: This variant has been reported in the literature (Cremers 2007, Najera 2002, Roux 2006) and in dbSNP (rs41298747). It is not exp ected to have clinical significance due to a common occurrence in controls and t he fact that the Met (methionine) variant at position 1566 is present in other m ammalian species including rat and mouse. |
Genomic Diagnostic Laboratory, |
RCV000036159 | SCV000296901 | benign | not specified | 2015-10-30 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000677317 | SCV000374389 | likely benign | Usher syndrome type 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000325844 | SCV000374390 | likely benign | Autosomal dominant nonsyndromic hearing loss 11 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000384892 | SCV000374391 | likely benign | Autosomal recessive nonsyndromic hearing loss 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000950207 | SCV000513836 | benign | not provided | 2019-04-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26969326, 25262649, 16679490, 22681893, 22952768, 12112664, 30245029) |
Eurofins Ntd Llc |
RCV000036159 | SCV000700567 | benign | not specified | 2017-01-31 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000677317 | SCV000803492 | benign | Usher syndrome type 1 | 2018-05-31 | criteria provided, single submitter | curation | This variant is interpreted as a Benign, for Usher syndrome 1B, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. |
Invitae | RCV000950207 | SCV001096495 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000950207 | SCV004131127 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | MYO7A: BP4, BS2 |
Natera, |
RCV001826549 | SCV002088465 | benign | Usher syndrome type 1B | 2019-11-01 | no assertion criteria provided | clinical testing |