ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=)

gnomAD frequency: 0.00081  dbSNP: rs143948660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517320 SCV000615460 benign not specified 2017-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000882477 SCV001025718 benign not provided 2024-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882477 SCV004137002 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SPTBN2: BP4, BP7

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