ClinVar Miner

Submissions for variant NM_004637.6(RAB7A):c.54-20T>C

gnomAD frequency: 0.00004  dbSNP: rs370926984
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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 RCV002110357 SCV002435984 likely benign Charcot-Marie-Tooth disease type 2B 2024-01-15 criteria provided, single submitter clinical testing

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