ClinVar Miner

Submissions for variant NM_001408.3(CELSR2):c.8154G>A (p.Thr2718=)

gnomAD frequency: 0.00218  dbSNP: rs41279718
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 RCV000966280 SCV001113577 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966280 SCV004124179 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CELSR2: BP4, BP7, BS2

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