ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9990T>C (p.Asn3330=)

gnomAD frequency: 0.00003  dbSNP: rs762565385
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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 RCV000941058 SCV001086937 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000941058 SCV001778079 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454963 SCV004182615 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454962 SCV004182616 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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