ClinVar Miner

Submissions for variant NM_001252024.2(TRPM1):c.279+147T>G

gnomAD frequency: 0.00001  dbSNP: rs150441866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761362 SCV000891348 likely pathogenic Congenital stationary night blindness 1C 2016-11-21 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000761362 SCV004807463 pathogenic Congenital stationary night blindness 1C 2024-03-26 criteria provided, single submitter clinical testing

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