Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155572 | SCV000205274 | benign | not specified | 2014-06-19 | criteria provided, single submitter | clinical testing | Gly442Val in exon 09 of SCNN1B: This variant is not expected to have clinical si gnificance because it has been identified in 12.86% (565/4394) of African Americ an chromosomes from a large population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs1799980). |
Eurofins Ntd Llc |
RCV000155572 | SCV000232948 | benign | not specified | 2014-09-15 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000155572 | SCV000303675 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000281749 | SCV000395890 | benign | Bronchiectasis with or without elevated sweat chloride 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000336811 | SCV000395891 | benign | Autosomal recessive pseudohypoaldosteronism 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000397070 | SCV000395892 | benign | Liddle syndrome 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Athena Diagnostics Inc | RCV000713384 | SCV000843984 | benign | not provided | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713384 | SCV001883626 | benign | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 10523338, 9674649) |
Invitae | RCV000713384 | SCV003246554 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing |