ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.1948+3A>G (rs10499054)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576512 SCV000677296 benign Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease, type 4J 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000244780 SCV000335665 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287031 SCV000459631 benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321790 SCV000459632 benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244780 SCV000312226 benign not specified criteria provided, single submitter clinical testing

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