ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.360+5G>C

dbSNP: rs281865179
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084927 SCV002546144 likely pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing GPR143: PM2, PS4:Moderate, PP3, PP4
Retina International RCV000084927 SCV000117063 not provided not provided no assertion provided not provided

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