ClinVar Miner

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

gnomAD frequency: 0.00437  dbSNP: 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 RCV000224292 SCV000521276 benign not provided 2019-09-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23664116, 27549087)
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 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2021-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224292 SCV001156755 likely benign not 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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