ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.591C>T (p.Pro197=)

gnomAD frequency: 0.00002  dbSNP: rs538242855
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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 RCV002152377 SCV002411999 likely benign Dyskeratosis congenita 2024-11-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002152377 SCV002531313 likely benign Dyskeratosis congenita 2021-09-10 criteria provided, single submitter curation

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