ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)

gnomAD frequency: 0.00014  dbSNP: rs750369546
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792343 SCV000931632 likely benign Charcot-Marie-Tooth disease type 4 2025-01-19 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173726 SCV001336840 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005231334 SCV005879098 likely benign Charcot-Marie-Tooth disease type 4D 2024-04-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000792343 SCV001462042 uncertain significance Charcot-Marie-Tooth disease type 4 2020-09-16 no assertion criteria provided clinical testing

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