ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)

gnomAD frequency: 0.00015  dbSNP: rs201066635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224584 SCV000281497 uncertain significance not provided 2016-01-27 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000707695 SCV000836802 likely benign Autosomal recessive polycystic kidney disease 2024-01-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000707695 SCV001319932 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844820 SCV001877018 uncertain significance Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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