Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000315103 | SCV000382957 | benign | Autosomal dominant nonsyndromic hearing loss 3A | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000328783 | SCV000382960 | benign | Autosomal recessive nonsyndromic hearing loss 1A | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000376404 | SCV000382961 | benign | Ichthyosis, hystrix-like, with hearing loss | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Pars Genome Lab | RCV000328783 | SCV001749998 | benign | Autosomal recessive nonsyndromic hearing loss 1A | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV000315103 | SCV001749999 | benign | Autosomal dominant nonsyndromic hearing loss 3A | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001539374 | SCV001757143 | benign | not provided | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001539374 | SCV005230747 | benign | not provided | criteria provided, single submitter | not provided |