ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.310+6del (rs780828430)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487806 SCV000292557 likely benign not provided 2020-06-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314404 SCV000474960 uncertain significance Charcot-Marie-Tooth with Vocal Cord Paresis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369024 SCV000474961 uncertain significance Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487806 SCV000575561 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV001079588 SCV000644064 likely benign Charcot-Marie-Tooth disease, type 4A 2020-10-21 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173553 SCV001336643 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Baylor Genetics RCV001334034 SCV001526769 uncertain significance Charcot-Marie-Tooth disease axonal type 2K 2018-11-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Functional Genomics,Research Centre for Medical Genetics RCV001334034 SCV001781229 likely benign Charcot-Marie-Tooth disease axonal type 2K 2021-08-12 criteria provided, single submitter clinical testing Splicing variant c.310+6delG in GDAP1 gene could be classified as likely benign variant according to AСMG criteria (PM2, BP4, BS3, PM3). The variant vas observed in 31 y.o. female patient with Charcot-Marie-Tooth disease with axonal type of lession in compound heterozygous state with pathogenic c.715C>T variant.

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