ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)

gnomAD frequency: 0.00011  dbSNP: rs76260483
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593964 SCV000707145 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000860707 SCV001000844 likely benign Autosomal recessive polycystic kidney disease 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000860707 SCV001325164 benign 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Revvity Omics, Revvity RCV003133390 SCV003808418 uncertain significance Polycystic kidney disease 4 2019-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927931 SCV004745792 likely benign PKHD1-related disorder 2022-12-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000860707 SCV001455256 likely benign Autosomal recessive polycystic kidney disease 2020-06-01 no assertion criteria provided clinical testing

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