ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)

dbSNP: rs763473957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994957 SCV001148794 likely pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002286795 SCV002577498 pathogenic Meckel syndrome, type 4 2021-10-08 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP4, PP5
Baylor Genetics RCV004569838 SCV005057346 likely pathogenic Bardet-Biedl syndrome 14 2024-02-19 criteria provided, single submitter clinical testing

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