ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.1534G>A (p.Val512Ile)

gnomAD frequency: 0.00002  dbSNP: rs748921807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840903 SCV000982848 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068570 SCV002406866 benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2024-02-17 criteria provided, single submitter clinical testing

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