ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)

gnomAD frequency: 0.00102  dbSNP: rs137925439
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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) RCV000322539 SCV000344233 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381594 SCV000464081 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000381594 SCV000557638 benign Autosomal recessive polycystic kidney disease 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000381594 SCV001459379 likely benign Autosomal recessive polycystic kidney disease 2020-04-14 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000322539 SCV002034038 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000322539 SCV002036672 likely benign not provided no assertion criteria provided clinical testing

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