ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.315-4587T>A

dbSNP: rs1930707138
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268673 SCV001447770 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001268673 SCV002546185 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing CHM: PP1:Strong, PM2, PM4:Supporting, PP4, PS3:Supporting, PS4:Supporting

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