ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu)

gnomAD frequency: 0.00443  dbSNP: rs113413307
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224162 SCV000281002 likely benign not provided 2015-08-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000244128 SCV000312366 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001080169 SCV001000653 benign Nephronophthisis 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100583 SCV001257111 benign Senior-Loken syndrome 4 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001102518 SCV001259196 benign Nephronophthisis 4 2017-04-28 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000244128 SCV001978040 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000244128 SCV001978852 benign not specified no assertion criteria provided clinical testing

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