ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.72C>T (p.Thr24=)

gnomAD frequency: 0.00004  dbSNP: rs551078982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174349 SCV001337485 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001463880 SCV001667831 likely benign Charcot-Marie-Tooth disease type 4 2024-01-16 criteria provided, single submitter clinical testing

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