ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1332C>G (p.Ser444=)

dbSNP: rs1987600121
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002171094 SCV002425904 likely benign Dyskeratosis congenita 2023-08-30 criteria provided, single submitter clinical testing

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