Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UCLA Clinical Genomics Center, |
RCV000197066 | SCV000255408 | likely pathogenic | 46,XY sex reversal 6 | 2013-05-14 | criteria provided, single submitter | clinical testing | |
Diagnostics Services |
RCV000197066 | SCV002043746 | uncertain significance | 46,XY sex reversal 6 | 2021-07-05 | criteria provided, single submitter | clinical testing | The c.770C>T variant is not present in publicly available population database like Exome Variant Server (EVS). The variant is present in 1000 Genomes, Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP including homozygotes. The heterozygous state of the variant is present in Indian Exome Database and in our in-house exome database at a low frequency. The variant was earlier reported to ClinVar, as likely pathogenic in similarly affected individuals [PMID: 11242112]. Predictions from different in-silico pathogenicity prediction programs like SIFT, PolyPhen-3, MutationTaster2, CADD, Varsome etc. are contradictory, however these predictions were not proved by established functional studies. Due to lack of enough evidence the variant has been calssified as uncertain significance. |
Mendelics | RCV002247625 | SCV002518689 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000197066 | SCV003302809 | benign | 46,XY sex reversal 6 | 2023-04-30 | criteria provided, single submitter | clinical testing |