ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13236G>A (p.Gln4412=)

gnomAD frequency: 0.00001  dbSNP: rs1013791595
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 RCV000976455 SCV001124357 likely benign not provided 2024-03-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832233 SCV002088270 likely benign Usher syndrome type 2A 2020-01-29 no assertion criteria provided clinical testing

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