ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1215T>C (p.Asn405=)

gnomAD frequency: 0.00002  dbSNP: rs745587883
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 RCV001404472 SCV001606372 likely benign not provided 2020-06-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826203 SCV002093997 likely benign Usher syndrome type 2A 2021-07-06 no assertion criteria provided clinical testing

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