ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2898G>A (p.Gly966=)

gnomAD frequency: 0.00073  dbSNP: rs1064797363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488224 SCV000575631 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing RPGR: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV000488224 SCV002759548 likely benign not provided 2020-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002526006 SCV003484911 likely benign Primary ciliary dyskinesia 2025-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000488224 SCV005192388 uncertain significance not provided criteria provided, single submitter not provided

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