ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15144G>C (p.Ala5048=)

dbSNP: rs397517998
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614918 SCV000727203 likely benign not specified 2018-02-06 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 RCV000978851 SCV001126785 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451438 SCV004181703 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451437 SCV004181714 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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