ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.363G>A (p.Ser121=)

gnomAD frequency: 0.00002  dbSNP: rs770555372
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502493 SCV000594252 uncertain significance not specified 2016-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001415273 SCV001617426 likely benign Dyskeratosis congenita 2024-11-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807271 SCV002054482 likely benign Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing

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