ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.57G>C (p.Thr19=) (rs192633696)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153581 SCV000203119 benign not specified 2014-02-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153581 SCV000316288 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318983 SCV000441169 uncertain significance Renal-hepatic-pancreatic dysplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375967 SCV000441170 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283618 SCV000441171 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000153581 SCV000516380 benign not specified 2016-03-21 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 RCV000857480 SCV000562263 benign not provided 2019-02-26 criteria provided, single submitter clinical testing

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