ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) (rs33950747)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251573 SCV000310559 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094492 SCV000411576 likely benign Congenital nephrotic syndrome 2018-03-06 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000277714 SCV000743921 benign Finnish congenital nephrotic syndrome 2015-07-20 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000277714 SCV000803437 benign Finnish congenital nephrotic syndrome 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Nephrotic syndrome, type 1, 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.
Athena Diagnostics Inc RCV000712420 SCV000842912 benign not provided 2017-08-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000277714 SCV000733876 benign Finnish congenital nephrotic syndrome no assertion criteria provided clinical testing

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