ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)

gnomAD frequency: 0.00005  dbSNP: rs373001247
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000761791 SCV000532350 likely benign not provided 2018-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761791 SCV000891986 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172583 SCV001335646 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001488391 SCV001692906 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2023-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451034 SCV002739649 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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