ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: 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 1C 2016-03-18 criteria provided, single submitter reference population
OMIM RCV000023310 SCV000044601 not provided Congenital stationary night blindness 1C 2024-02-29 no assertion criteria provided literature only

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