ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10950A>G (p.Pro3650=)

gnomAD frequency: 0.00001  dbSNP: rs372690499
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890025 SCV001033747 likely benign not provided 2023-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274945 SCV001459528 likely benign Usher syndrome type 2A 2020-05-01 no assertion criteria provided clinical testing

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