ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.179-17G>A

gnomAD frequency: 0.00621  dbSNP: rs77406217
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172750 SCV001335816 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001517429 SCV001725918 benign Charcot-Marie-Tooth disease, type I 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001638048 SCV001850433 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001638048 SCV002047878 benign not provided 2023-09-21 criteria provided, single submitter clinical testing

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