ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.2331G>A (p.Thr777=)

gnomAD frequency: 0.00004  dbSNP: rs779170531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512788 SCV000609342 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088440 SCV001119747 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 2024-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002455986 SCV002736353 likely benign Inborn genetic diseases 2019-07-11 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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