ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) (rs3745674)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000329210 SCV000410349 likely benign Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383751 SCV000410350 likely benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000120648 SCV000526094 benign not specified 2016-11-18 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 RCV000546731 SCV000640248 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
ITMI RCV000120648 SCV000084809 not provided not specified 2013-09-19 no assertion provided reference population

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