ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.517+8G>A

gnomAD frequency: 0.00048  dbSNP: rs369913079
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 RCV001523582 SCV001733309 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001523582 SCV004699781 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing DEAF1: BP4

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