ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser)

gnomAD frequency: 0.00420  dbSNP: rs200831077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543554 SCV000653008 benign Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001568100 SCV001791909 likely benign not provided 2020-01-28 criteria provided, single submitter clinical testing

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