Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Human Genetics, |
RCV000185540 | SCV000238419 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 4A | 2015-01-29 | no assertion criteria provided | research | This test identified a heterozygous variant (c.3506G>A; p.Arg1169Gln) in the MYH14 gene. This gene has been associated with an autosomal dominant hearing loss (DFNA4A;MIM: 600652). This variant is considered a variant of unknown significance, as it is a novel variant that has not been reported in literature and absent in reference databases. |