ClinVar Miner

Submissions for variant NM_001252024.2(TRPM1):c.69G>A (p.Met23Ile)

gnomAD frequency: 0.00007  dbSNP: rs770561064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171229 SCV000221426 likely pathogenic not provided criteria provided, single submitter research

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