ClinVar Miner

Submissions for variant NM_004637.6(RAB7A):c.529-11T>G

dbSNP: rs1363669325
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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 RCV001173969 SCV001337089 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005056987 SCV005715360 likely benign Charcot-Marie-Tooth disease type 2B 2024-10-09 criteria provided, single submitter clinical testing

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