Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215439 | SCV000270515 | likely benign | not specified | 2015-05-17 | criteria provided, single submitter | clinical testing | p.Gly2357Ser in exon 34 of MYO15A: This variant is not expected to have clinical significance because the glycine (Gly) residue at position 2357 is not conserve d through species, with 10 mammals having a serine (Ser) at this position. It ha s been identified in 14/104260 chromosomes by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org; dbSNP rs201540919). |
Eurofins Ntd Llc |
RCV000732203 | SCV000860126 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001286719 | SCV001473333 | likely benign | Autosomal recessive nonsyndromic hearing loss 3 | 2019-09-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000732203 | SCV001709010 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002519610 | SCV003603275 | uncertain significance | Inborn genetic diseases | 2022-12-21 | criteria provided, single submitter | clinical testing | The c.7069G>A (p.G2357S) alteration is located in exon 34 (coding exon 33) of the MYO15A gene. This alteration results from a G to A substitution at nucleotide position 7069, causing the glycine (G) at amino acid position 2357 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |