Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587125 | SCV000699863 | uncertain significance | not provided | 2016-08-09 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.3839G>A (p.Arg1280His) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant. This variant is located in the Immunoglobulin-like fold (InterPro). This variant was found in 5/120618 control chromosomes at a frequency of 0.0000415, which does not exceed the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. An internal sample carrying this variant also carries another pathogenic variant (c.3761_3762delCCinsG) however phase of the variants is unknown. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Fulgent Genetics, |
RCV002483572 | SCV002786063 | uncertain significance | Polycystic kidney disease 4 | 2021-09-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274854 | SCV001459385 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-06-30 | no assertion criteria provided | clinical testing |