ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) (rs138048706)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462434 SCV000546064 likely benign not provided 2019-01-04 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662126 SCV000784469 uncertain significance Charcot-Marie-Tooth disease, type 4J 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662127 SCV000784470 uncertain significance Amyotrophic lateral sclerosis type 11 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662128 SCV000784471 uncertain significance Yunis Varon syndrome 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662129 SCV000784472 uncertain significance Polymicrogyria, bilateral temporooccipital 2018-03-05 criteria provided, single submitter clinical testing

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