ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2373G>A (p.Glu791=)

gnomAD frequency: 0.00006  dbSNP: rs746011575
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
Invitae RCV000939713 SCV001085563 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832142 SCV002081340 likely benign Usher syndrome type 1C 2020-03-05 no assertion criteria provided clinical testing

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