ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.12A>G (p.Pro4=)

gnomAD frequency: 0.00001  dbSNP: rs760120748
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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 RCV002106397 SCV002433245 likely benign Charcot-Marie-Tooth disease type 1C 2024-08-21 criteria provided, single submitter clinical testing

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