Submissions for variant NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)

gnomAD frequency: 0.00001  dbSNP: rs768701595

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490382	SCV000267542	uncertain significance	Congenital stationary night blindness 1C	2016-03-18	criteria provided, single submitter	reference population
Fulgent Genetics, Fulgent Genetics	RCV000490382	SCV000894904	uncertain significance	Congenital stationary night blindness 1C	2018-10-31	criteria provided, single submitter	clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV002508781	SCV002818203	likely pathogenic	not provided	2022-12-17	criteria provided, single submitter	clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV000490382	SCV003920946	pathogenic	Congenital stationary night blindness 1C	2022-09-11	criteria provided, single submitter	clinical testing	This variant was observed with a CNV
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003232	SCV001161311	likely pathogenic	Congenital stationary night blindness	2019-06-23	no assertion criteria provided	research
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000490382	SCV001984239	uncertain significance	Congenital stationary night blindness 1C	2020-11-02	flagged submission	clinical testing