ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) (rs28939695)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174106 SCV000225346 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490526 SCV000267423 uncertain significance Finnish congenital nephrotic syndrome 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000490526 SCV000800799 likely benign Finnish congenital nephrotic syndrome 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV000879499 SCV001022535 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001123648 SCV001282501 benign Congenital nephrotic syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Blueprint Genetics RCV000157397 SCV000207136 likely benign Proteinuria 2014-09-17 no assertion criteria provided clinical testing

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