ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)

gnomAD frequency: 0.00031  dbSNP: rs147023536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051362 SCV001215511 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273043 SCV001455626 uncertain significance Usher syndrome type 2A 2020-01-24 no assertion criteria provided clinical testing

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