ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) (rs551521196)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429342 SCV000521333 likely benign not specified 2016-06-22 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.
Invitae RCV000533214 SCV000653007 likely benign Spinal muscular atrophy, jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990379 SCV001141337 benign Spinal muscular atrophy, jokela type 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000192231 SCV000239869 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 2015-04-14 no assertion criteria provided literature only

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