ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2628T>A (p.Gly876=)

gnomAD frequency: 0.00004  dbSNP: rs768522338
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001486168 SCV001690622 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001486168 SCV001783579 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451749 SCV004182419 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451748 SCV004182420 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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