ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg)

dbSNP: rs1367809298
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000516028 SCV000574496 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001212904 SCV001384507 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2024-07-30 criteria provided, single submitter clinical testing

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