ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)

gnomAD frequency: 0.00087  dbSNP: rs200654041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592931 SCV000703608 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001163477 SCV001325520 uncertain significance Autosomal recessive polycystic kidney disease 2017-10-02 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.
Invitae RCV001163477 SCV002433781 likely benign Autosomal recessive polycystic kidney disease 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000592931 SCV002549262 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11919560, 15108277)

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