ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.67-7T>C (rs56378532)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576797 SCV000677297 benign Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease, type 4J 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000125107 SCV000168547 benign not specified 2014-03-24 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 RCV000261180 SCV000459605 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000469132 SCV000459606 likely benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469132 SCV000557786 benign Charcot-Marie-Tooth disease type 4 2017-01-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000125107 SCV000312232 benign not specified criteria provided, single submitter clinical testing

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