ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11631A>C (p.Ala3877=)

gnomAD frequency: 0.00001  dbSNP: rs1318290007
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 RCV001475413 SCV001679603 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278869 SCV001465915 uncertain significance Usher syndrome type 2A 2020-08-14 no assertion criteria provided clinical testing

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