ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.941-3C>T

gnomAD frequency: 0.00002  dbSNP: rs537615209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002138809 SCV002455058 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV002138809 SCV005848312 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 35990031, 36556986)

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