ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)

dbSNP: rs9153
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422642 SCV000517531 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.
Mendelics RCV000990377 SCV001141335 benign Lower motor neuron syndrome with late-adult onset 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001518488 SCV001727186 benign Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578883 SCV001806236 benign Autosomal dominant mitochondrial myopathy with exercise intolerance 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578884 SCV001806237 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000990377 SCV001806238 benign Lower motor neuron syndrome with late-adult onset 2021-07-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000422642 SCV001807363 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000422642 SCV001920884 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000422642 SCV001951247 benign not specified no assertion criteria provided clinical testing

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