ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.410-14C>T

gnomAD frequency: 0.00007  dbSNP: rs375779737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002102767 SCV002382938 likely benign Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2024-11-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238247 SCV005886610 likely benign not specified 2025-02-04 criteria provided, single submitter clinical testing

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