ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln)

gnomAD frequency: 0.00022  dbSNP: rs187147906
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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
Invitae RCV000944385 SCV001090355 likely benign not provided 2021-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000944385 SCV001778934 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge

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