ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) (rs141477666)

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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 RCV000153593 SCV000203133 likely benign not specified 2015-09-02 criteria provided, single submitter clinical testing
Invitae RCV000168169 SCV000218831 benign Nephronophthisis 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001704114 SCV000566586 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27392076, 17855640, 23188109)
Illumina Clinical Services Laboratory,Illumina RCV001145350 SCV001306019 uncertain significance Renal-hepatic-pancreatic dysplasia 1 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001145351 SCV001306020 uncertain significance Meckel syndrome type 7 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001149669 SCV001310647 uncertain significance Nephronophthisis 3 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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