Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000350916 | SCV000337369 | uncertain significance | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001277300 | SCV001213146 | likely benign | Zellweger spectrum disorders | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480020 | SCV002793103 | uncertain significance | Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B | 2022-03-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165737 | SCV003886620 | uncertain significance | Inborn genetic diseases | 2023-03-01 | criteria provided, single submitter | clinical testing | The c.3106G>T (p.A1036S) alteration is located in exon 20 (coding exon 20) of the PEX1 gene. This alteration results from a G to T substitution at nucleotide position 3106, causing the alanine (A) at amino acid position 1036 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV000350916 | SCV004224038 | uncertain significance | not provided | 2022-11-14 | criteria provided, single submitter | clinical testing | PP3, PM2 |
Natera, |
RCV001277300 | SCV001464241 | uncertain significance | Zellweger spectrum disorders | 2017-08-09 | no assertion criteria provided | clinical testing |