ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6801G>A (p.Pro2267=)

gnomAD frequency: 0.00012  dbSNP: rs375235470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000921094 SCV001066486 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074935 SCV001240542 uncertain significance Retinal dystrophy 2017-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000921094 SCV001792870 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing

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