ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.332+8G>A

gnomAD frequency: 0.97982  dbSNP: rs4508371
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262789 SCV001440790 uncertain significance Focal segmental glomerulosclerosis 6 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512484 SCV001719911 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001512484 SCV001893733 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001262789 SCV002015883 benign Focal segmental glomerulosclerosis 6 2021-09-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529834 SCV001743992 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529834 SCV001959294 benign not specified no assertion criteria provided clinical testing

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