Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003227502 | SCV000955603 | likely benign | Autosomal dominant centronuclear myopathy | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004028842 | SCV003633832 | uncertain significance | not specified | 2021-08-02 | criteria provided, single submitter | clinical testing | The c.79G>A (p.V27M) alteration is located in exon 1 (coding exon 1) of the MYF6 gene. This alteration results from a G to A substitution at nucleotide position 79, causing the valine (V) at amino acid position 27 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |