ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) (rs775332895)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558062 SCV000653012 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 RCV000990378 SCV001141336 benign Spinal muscular atrophy, jokela type 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092755 SCV001249403 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
GeneReviews RCV000192233 SCV000239872 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 2015-04-14 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000558062 SCV000840207 not provided Spinal muscular atrophy, jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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