ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.22T>C (p.Leu8=)

gnomAD frequency: 0.00004  dbSNP: rs778803503
Minimum review status: Collection method:
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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 RCV000939970 SCV001085826 likely benign not provided 2024-06-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832145 SCV002094045 likely benign Usher syndrome type 2A 2021-01-13 no assertion criteria provided clinical testing

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