ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.1543G>A (p.Glu515Lys)

dbSNP: rs1587668852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002086755 SCV002320861 likely pathogenic Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 2022-01-01 criteria provided, single submitter clinical testing

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