Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552097 | SCV000630312 | benign | Multiple gastrointestinal atresias | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000552097 | SCV000782488 | uncertain significance | Multiple gastrointestinal atresias | 2016-08-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001532402 | SCV001747955 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTC7A: BS2 |
Center for Genomics, |
RCV002060296 | SCV002496018 | uncertain significance | Gastrointestinal defects and immunodeficiency syndrome 1 | 2021-06-14 | criteria provided, single submitter | clinical testing | TTC7A NM_020458.2 exon 3 p.Arg146Leu (c.437G>T): This variant has not been reported in the literature but is present in 0.6% (476/68038) of European alleles including 4 homozygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-46956927-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:458800). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ambry Genetics | RCV002528316 | SCV003620751 | uncertain significance | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.437G>T (p.R146L) alteration is located in exon 3 (coding exon 3) of the TTC7A gene. This alteration results from a G to T substitution at nucleotide position 437, causing the arginine (R) at amino acid position 146 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |