ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) (rs61754130)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224292 SCV000280665 likely benign not provided 2016-03-03 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000431161 SCV000521276 likely benign not specified 2017-11-30 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.
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde RCV000516078 SCV000574482 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
Athena Diagnostics Inc RCV000431161 SCV000612487 benign not specified 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV001081222 SCV000654155 benign Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 2020-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282122 SCV001156755 likely benign none provided 2020-02-28 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789077 SCV000928426 benign Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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