ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.1673G>C (p.Arg558Pro)

dbSNP: rs1263279945
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995709 SCV001150029 likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2019-06-07 criteria provided, single submitter clinical testing

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