ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1815C>T (p.Ala605=)

dbSNP: rs1218513356
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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 RCV003860846 SCV004667594 likely benign Dyskeratosis congenita 2024-01-19 criteria provided, single submitter clinical testing

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