ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.48A>C (p.Pro16=)

gnomAD frequency: 0.91291  dbSNP: rs179468
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431355 SCV000517529 benign not specified 2016-02-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001518489 SCV001727187 benign Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579004 SCV001806388 benign Autosomal dominant mitochondrial myopathy with exercise intolerance 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579005 SCV001806389 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579006 SCV001806390 benign Lower motor neuron syndrome with late-adult onset 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712799 SCV005277036 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000431355 SCV001807781 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000431355 SCV001925734 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000431355 SCV001951136 benign not specified no assertion criteria provided clinical testing

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