ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8681+18A>G

gnomAD frequency: 0.01418  dbSNP: rs41277198
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126253 SCV000169752 benign not specified 2013-05-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001513424 SCV001157550 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513424 SCV001721041 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533605 SCV001750317 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513424 SCV005287650 benign not provided criteria provided, single submitter not provided

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