Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150882 | SCV000198454 | benign | not specified | 2015-11-05 | criteria provided, single submitter | clinical testing | Asp606Glu in exon 13 of KCNQ4: This variant is not expected to have clinical sig nificance because it has been identified in 3.9% (293/7602) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org, dbSNP rs139835231). In addition, it is not conserved across species, including mammals. Of note, kangaroo rat and platypus have glutamate (Glu) at this positi on despite high nearby amino acid conservation. |
Labcorp Genetics |
RCV000884280 | SCV001027647 | benign | not provided | 2025-01-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000884280 | SCV001759370 | benign | not provided | 2018-09-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17033161) |
Genome- |
RCV003445565 | SCV004173864 | benign | Autosomal dominant nonsyndromic hearing loss 2A | 2023-04-11 | criteria provided, single submitter | clinical testing |