ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.179C>T (p.Ser60Leu)

gnomAD frequency: 0.00003  dbSNP: rs765644026
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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 RCV000700911 SCV000829688 likely benign Charcot-Marie-Tooth disease type 1C 2025-01-02 criteria provided, single submitter clinical testing

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