ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.261+17A>G

dbSNP: rs754940184
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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 RCV002099867 SCV002327941 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 2023-12-27 criteria provided, single submitter clinical testing

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