Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036119 | SCV000059771 | likely benign | not specified | 2016-04-13 | criteria provided, single submitter | clinical testing | p.Cys1201Ser in exon 28 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 0.4% (36/8622) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs117966637). |
Counsyl | RCV000665509 | SCV000789647 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-02-08 | criteria provided, single submitter | clinical testing | |
Genetic Testing Center for Deafness, |
RCV001002751 | SCV000992391 | likely benign | Autosomal dominant nonsyndromic hearing loss 11 | criteria provided, single submitter | case-control | ||
Invitae | RCV000937221 | SCV001083002 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001002751 | SCV001268510 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001111010 | SCV001268511 | uncertain significance | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001111011 | SCV001268512 | uncertain significance | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000937221 | SCV001777633 | uncertain significance | not provided | 2021-06-29 | criteria provided, single submitter | clinical testing | Observed as heterozygous in multiple unrelated patients with hearing loss in published literature; patients either harbored no second MYO7A variant or few patient details were provided (Yoshimura et al., 2013; Nishio et al., 2015; Chen et al., 2016; Sun et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29625443, 27535533, 33111992, 25788563, 27610647, 24831256, 23237960, 30245029) |