ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5538G>C (p.Leu1846=)

gnomAD frequency: 0.00002  dbSNP: rs370356689
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613020 SCV000722880 likely benign not specified 2017-09-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000879372 SCV001022397 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451424 SCV004181791 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451423 SCV004181793 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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