ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.409+27G>C

dbSNP: rs140182
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578880 SCV001806233 benign Autosomal dominant mitochondrial myopathy with exercise intolerance 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578881 SCV001806234 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578882 SCV001806235 benign Lower motor neuron syndrome with late-adult onset 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001615337 SCV001836233 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615337 SCV005277025 benign not provided criteria provided, single submitter not provided

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