ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1158C>A (p.Ile386=)

gnomAD frequency: 0.00007  dbSNP: rs1037072307
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 RCV000912537 SCV001057647 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277085 SCV001463883 likely benign Usher syndrome type 2A 2019-12-23 no assertion criteria provided clinical testing

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