ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.1715G>A (p.Arg572His)

gnomAD frequency: 0.00004  dbSNP: rs777902159
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046535 SCV001210440 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2024-10-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145284 SCV003829852 uncertain significance not provided 2022-05-23 criteria provided, single submitter clinical testing

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