ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.1292-7T>G

gnomAD frequency: 0.00513  dbSNP: rs144453358
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 RCV000950148 SCV001096433 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950148 SCV004159784 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing IMPG1: BP4, BS2

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