ClinVar Miner

Submissions for variant NM_031220.3(PITPNM3):c.1878G>C (p.Gln626His) (rs76024428)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512878 SCV000608801 likely pathogenic not provided 2017-04-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000512878 SCV000203255 uncertain significance not provided 2015-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000153697 SCV000730655 likely benign not specified 2017-10-19 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.
Illumina Clinical Services Laboratory,Illumina RCV000312928 SCV000405823 likely benign Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000002071 SCV000782437 uncertain significance Cone-rod dystrophy 5 2016-04-01 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787861 SCV000926877 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
OMIM RCV000002071 SCV000022229 pathogenic Cone-rod dystrophy 5 2007-06-01 no assertion criteria provided literature only

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