ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln)

gnomAD frequency: 0.01099  dbSNP: rs12084067
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231338 SCV000290054 benign Nephronophthisis 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001093798 SCV000358446 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000389915 SCV000358447 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294088 SCV002587534 likely benign Kidney disorder 2018-06-01 criteria provided, single submitter clinical testing

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