ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.609-6A>C

gnomAD frequency: 0.00001  dbSNP: rs1276227203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002204223 SCV002491907 likely benign Charcot-Marie-Tooth disease type 2 2021-11-02 criteria provided, single submitter clinical testing

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