ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)

gnomAD frequency: 0.00794  dbSNP: rs151247357
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001690177 SCV001910565 benign not provided 2021-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073226 SCV002387427 benign Primary ciliary dyskinesia 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV001690177 SCV002759526 benign not provided 2019-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496009 SCV002796517 likely benign X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 2022-03-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001690177 SCV004164816 benign not provided 2024-02-01 criteria provided, single submitter clinical testing RPGR: BP4, BS1, BS2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004594516 SCV005086742 likely benign Macular degeneration, X-linked atrophic 2023-07-17 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of macular degeneration, X-linked atrophic (MIM#300834), with 188 hemizygotes and 7 homozygotes in gnomAD v3. (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Breakthrough Genomics, Breakthrough Genomics RCV001690177 SCV005276091 benign not provided criteria provided, single submitter not provided

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