ClinVar Miner

Submissions for variant NM_004327.4(BCR):c.2845G>A (p.Val949Ile)

gnomAD frequency: 0.00451  dbSNP: rs2229038
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203183 SCV000257951 benign not specified 2015-06-18 criteria provided, single submitter clinical testing
Invitae RCV000963533 SCV001110697 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963533 SCV004152267 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing BCR: BS2

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