ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.810C>T (p.Cys270=) (rs73954628)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117831 SCV000232502 benign not specified 2014-10-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117831 SCV000303405 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341366 SCV000415911 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394096 SCV000415912 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278419 SCV000415913 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000117831 SCV000517182 benign not specified 2016-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000857677 SCV000562302 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117831 SCV000152101 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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