ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2853G>A (p.Glu951=)

gnomAD frequency: 0.00481  dbSNP: rs766376194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593331 SCV001816257 likely benign not provided 2019-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882720 SCV002135240 likely benign Primary ciliary dyskinesia 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV001593331 SCV002759544 benign not provided 2017-01-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001593331 SCV005209226 likely benign not provided criteria provided, single submitter not provided

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