ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.369C>T (p.Cys123=)

gnomAD frequency: 0.00001  dbSNP: rs762993631
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455061 SCV001658808 likely benign Charcot-Marie-Tooth disease type 1C 2024-08-28 criteria provided, single submitter clinical testing

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