ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.752G>A (p.Arg251His)

gnomAD frequency: 0.00002  dbSNP: rs533199924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075211 SCV002374587 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2021-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002391209 SCV002672007 likely benign Inborn genetic diseases 2021-12-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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