ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7776A>G (p.Pro2592=)

gnomAD frequency: 0.00002  dbSNP: rs753565758
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885119 SCV001028545 likely benign not provided 2025-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271976 SCV001453603 uncertain significance Usher syndrome type 2A 2020-01-24 no assertion criteria provided clinical testing

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