ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.420C>T (p.Ala140=)

gnomAD frequency: 0.00002  dbSNP: rs750617013
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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 RCV002164813 SCV002334283 likely benign Charcot-Marie-Tooth disease type 1C 2022-07-06 criteria provided, single submitter clinical testing

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