ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6741C>T (p.Pro2247=)

dbSNP: rs766287712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941611 SCV001087503 likely benign not provided 2024-02-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271994 SCV001453622 uncertain significance Usher syndrome type 2A 2020-02-13 no assertion criteria provided clinical testing

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