ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.198G>A (p.Ala66=)

gnomAD frequency: 0.00004  dbSNP: rs146888937
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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 RCV002064476 SCV002464645 likely benign Charcot-Marie-Tooth disease type 1C 2023-02-21 criteria provided, single submitter clinical testing

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