ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7491G>T (p.Val2497=)

gnomAD frequency: 0.00021  dbSNP: rs142143100
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001405070 SCV001606986 likely benign not provided 2024-12-10 criteria provided, single submitter clinical testing
GeneDx RCV001405070 SCV001796659 likely benign not provided 2020-06-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451716 SCV004183246 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451715 SCV004183248 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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