Submissions for variant NM_022098.4(XPNPEP3):c.590-8A>G

gnomAD frequency: 0.00156  dbSNP: rs143719656

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000154150	SCV000203816	uncertain significance	not provided	2015-02-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083063	SCV000438694	uncertain significance	Nephronophthisis-like nephropathy 1	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083063	SCV000557670	likely benign	Nephronophthisis-like nephropathy 1	2024-01-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000154150	SCV001978269	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000154150	SCV001980200	likely benign	not provided		no assertion criteria provided	clinical testing