ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) (rs62406032)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082541 SCV000114583 benign not specified 2015-10-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082541 SCV000315791 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318202 SCV000464103 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000082541 SCV000592889 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000318202 SCV000743916 benign Autosomal recessive polycystic kidney disease 2017-01-17 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000318202 SCV000803543 benign Autosomal recessive polycystic kidney disease 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Polycystic kidney disease 4 with or without polycystic liver disease, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Invitae RCV000318202 SCV001000534 benign Autosomal recessive polycystic kidney disease 2019-12-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000318202 SCV000734508 benign Autosomal recessive polycystic kidney disease no assertion criteria provided clinical testing

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