ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.117+28G>A (rs4321999)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829683 SCV000971415 benign not provided 2018-06-14 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173555 SCV001336645 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001702726 SCV001933762 benign Charcot-Marie-Tooth disease axonal type 2K 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001703238 SCV001933764 benign Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001702840 SCV001933765 benign Charcot-Marie-Tooth disease, recessive intermediate A 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001702725 SCV001933766 benign Charcot-Marie-Tooth disease, type 4A 2021-08-10 criteria provided, single submitter clinical testing

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