ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) (rs17472401)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081708 SCV000113639 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
Invitae RCV001083511 SCV000636138 benign Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986225 SCV001135157 benign Nephronophthisis 4 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000537976 SCV001147115 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986225 SCV001256851 likely benign Nephronophthisis 4 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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