ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.245C>T (p.Thr82Met) (rs869320625)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000845002 SCV000986832 not provided EMC1-Related Disorder no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 06/18/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000210379 SCV000746362 pathogenic Cerebellar atrophy, visual impairment, and psychomotor retardation 2017-12-03 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235453 SCV000258466 uncertain significance not specified criteria provided, single submitter research
OMIM RCV000210379 SCV000266489 pathogenic Cerebellar atrophy, visual impairment, and psychomotor retardation 2016-03-29 no assertion criteria provided literature only

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