ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=)

gnomAD frequency: 0.00229  dbSNP: rs145249947
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000900581 SCV005213085 likely benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479168 SCV004222769 likely benign not specified 2023-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000900581 SCV001500973 likely benign not provided 2026-02-01 criteria provided, single submitter clinical testing SPTBN2: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV000900581 SCV001044907 benign not provided 2025-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576735 SCV000677446 benign Spinocerebellar ataxia type 5 2017-06-29 criteria provided, single submitter clinical testing

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