ClinVar Miner

Submissions for variant NM_001129891.3(INSYN2B):c.1089C>T (p.Thr363=)

gnomAD frequency: 0.00200  dbSNP: rs115307165
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952523 SCV001099036 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000952523 SCV004158011 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing INSYN2B: BP4, BP7, BS2

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