ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3811-73C>G

gnomAD frequency: 0.10517  dbSNP: rs2241394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190315 SCV001950647 benign not provided 2021-06-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22174912)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294044 SCV002587212 likely benign Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000190315 SCV000196539 not provided not provided no assertion provided not provided

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