ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.142-14dup

dbSNP: rs530695547
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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 RCV001173799 SCV001336913 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001593307 SCV001826449 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068094 SCV002461241 benign Charcot-Marie-Tooth disease type 4 2025-01-24 criteria provided, single submitter clinical testing

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