ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln)

gnomAD frequency: 0.00013  dbSNP: rs369717474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002543544 SCV003519279 likely benign not provided 2023-08-06 criteria provided, single submitter clinical testing
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001310264 SCV001499874 uncertain significance Short stature 2021-01-31 no assertion criteria provided research

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