Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Tehran Medical Genetics Laboratory | RCV000735808 | SCV000853079 | likely pathogenic | Achromatopsia 2 | 2018-09-26 | criteria provided, single submitter | clinical testing | The c.130_151dup p.(Ala51Valfs*16) creates a shift in the reading frame starting at codon 51. The new reading frame ends in a stop codon 15 positions downstream. This variant has been confirmed by Sanger sequencing and it is classified as likely pathogenic (class 2) according to the recommendations of Centogene and ACMG. |
Sharon lab, |
RCV001002959 | SCV001161002 | pathogenic | Achromatopsia | 2019-06-23 | no assertion criteria provided | research |