ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3495G>A (p.Pro1165=)

gnomAD frequency: 0.00002  dbSNP: rs556097361
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000868329 SCV001009644 likely benign Dyskeratosis congenita 2025-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413689 SCV004141936 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CTC1: BP4, BP7

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