ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)

gnomAD frequency: 0.00010  dbSNP: rs370153201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174340 SCV001337476 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403683 SCV001605559 likely benign Charcot-Marie-Tooth disease type 4 2024-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706064 SCV005219997 likely benign not provided criteria provided, single submitter not provided

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