ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1374+9C>T

gnomAD frequency: 0.00090  dbSNP: rs574703435
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653983 SCV000775873 benign Charcot-Marie-Tooth disease type 2 2024-11-17 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173456 SCV001336545 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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