ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr)

gnomAD frequency: 0.05376  dbSNP: rs111677724
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535944 SCV000653013 benign Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001712518 SCV001944543 benign not provided 2018-10-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29519717)
Breakthrough Genomics, Breakthrough Genomics RCV001712518 SCV005277028 benign not provided criteria provided, single submitter not provided

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