Submissions for variant NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)

gnomAD frequency: 0.00646  dbSNP: rs147487242

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177959	SCV000229924	benign	not specified	2015-01-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177959	SCV000315819	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354123	SCV000464075	uncertain significance	Autosomal recessive polycystic kidney disease	2018-01-12	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	RCV000354123	SCV000557640	benign	Autosomal recessive polycystic kidney disease	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000857781	SCV001154772	likely benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000857781	SCV001936704	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000857781	SCV002036450	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000177959	SCV002038078	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000354123	SCV002078054	benign	Autosomal recessive polycystic kidney disease	2017-06-30	no assertion criteria provided	clinical testing