ClinVar Miner

Submissions for variant NM_001136472.2(LITAF):c.102C>A (p.Pro34=)

gnomAD frequency: 0.00001  dbSNP: rs369748649
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002087095 SCV002321162 likely benign Charcot-Marie-Tooth disease type 1C 2021-05-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809738 SCV005436405 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing LITAF: BP4, BP7

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