ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13563T>C (p.Pro4521=)

gnomAD frequency: 0.00024  dbSNP: rs139701970
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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 RCV000918643 SCV001063961 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000918643 SCV001786356 likely benign not provided 2020-08-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454952 SCV004183156 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454951 SCV004183158 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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