ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)

gnomAD frequency: 0.00135  dbSNP: rs141574387
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082546 SCV000114588 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000082546 SCV000918016 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860578 SCV001000675 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000860578 SCV001325409 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.
GeneDx RCV001588907 SCV001816482 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12846734, 15108277)
Natera, Inc. RCV000860578 SCV001459389 likely benign Autosomal recessive polycystic kidney disease 2019-08-02 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001588907 SCV002034208 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001588907 SCV002035530 likely benign not provided no assertion criteria provided clinical testing

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