ClinVar Miner

Submissions for variant NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) (rs387906862)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000023310 SCV000267541 likely pathogenic Congenital stationary night blindness, type 1C 2016-03-18 criteria provided, single submitter reference population
OMIM RCV000023310 SCV000044601 pathogenic Congenital stationary night blindness, type 1C 2010-03-12 no assertion criteria provided literature only

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