ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.2258+15G>C

gnomAD frequency: 0.00450  dbSNP: rs140501870
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424060 SCV000528852 likely benign not specified 2017-11-09 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810935 SCV001473142 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Invitae RCV002059718 SCV002492558 benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502558 SCV002798952 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 2022-05-11 criteria provided, single submitter clinical testing

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