Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193312 | SCV001362063 | uncertain significance | not specified | 2020-08-19 | criteria provided, single submitter | clinical testing | Variant summary: TMEM67 c.43T>A (p.Ser15Thr) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-05 in 251436 control chromosomes, predominantly at a frequency of 0.00061 within the Latino subpopulation in the gnomAD database. This frequency is lower than the estimated maximum allele frequency expected for a pathogenic variant in TMEM67 causing Joubert Syndrome 6 (0.00061 vs 0.004), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.43T>A in individuals affected with Joubert Syndrome 6 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV002480641 | SCV002791775 | uncertain significance | COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 | 2021-09-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002561008 | SCV003026845 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-02-16 | criteria provided, single submitter | clinical testing |