ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.1272-10C>G (rs201293291)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260196 SCV000459622 uncertain significance Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000654276 SCV000459623 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000654276 SCV000776166 likely benign Charcot-Marie-Tooth disease type 4 2017-10-26 criteria provided, single submitter clinical testing

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