ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6711C>T (p.Asp2237=)

dbSNP: rs138959688
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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 RCV000942680 SCV001088611 likely benign not provided 2024-11-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579275 SCV001806745 likely benign Usher syndrome type 2A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579276 SCV001806746 likely benign Retinitis pigmentosa 39 2021-07-22 criteria provided, single submitter clinical testing

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