ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.594+9C>T

gnomAD frequency: 0.00004  dbSNP: rs373172944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868459 SCV001009791 likely benign Charcot-Marie-Tooth disease type 4 2024-01-21 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174348 SCV001337484 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Natera, Inc. RCV001273466 SCV001456519 uncertain significance Charcot-Marie-Tooth disease type 4D 2020-06-10 no assertion criteria provided clinical testing

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