ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) (rs45500692)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082531 SCV000114573 benign not specified 2013-03-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082531 SCV000315777 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000468175 SCV000557657 benign Autosomal recessive polycystic kidney disease 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000468175 SCV000743918 benign Autosomal recessive polycystic kidney disease 2014-10-09 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000468175 SCV000803552 benign Autosomal recessive polycystic kidney disease 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Polycystic kidney disease 4 with or without polycystic liver disease, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Illumina Clinical Services Laboratory,Illumina RCV000468175 SCV001320520 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000468175 SCV000734509 benign Autosomal recessive polycystic kidney disease no assertion criteria provided clinical testing

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