ClinVar Miner

Submissions for variant NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro)

dbSNP: rs869312176
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000210285 SCV000259073 likely pathogenic Congenital stationary night blindness 1C 2014-12-30 no assertion criteria provided clinical testing

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