Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226480 | SCV001398795 | likely benign | Nephronophthisis | 2022-07-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003398973 | SCV004120414 | uncertain significance | NPHP4-related condition | 2022-12-15 | criteria provided, single submitter | clinical testing | The NPHP4 c.11G>A variant is predicted to result in the amino acid substitution p.Arg4Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-5987773-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |