Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757520 | SCV000885774 | uncertain significance | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757520 | SCV001785231 | uncertain significance | not provided | 2021-02-02 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV003243293 | SCV003940149 | uncertain significance | Inborn genetic diseases | 2023-04-19 | criteria provided, single submitter | clinical testing | The c.4096C>T (p.R1366C) alteration is located in exon 30 (coding exon 29) of the MYH14 gene. This alteration results from a C to T substitution at nucleotide position 4096, causing the arginine (R) at amino acid position 1366 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |