ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)

gnomAD frequency: 0.00028  dbSNP: rs376216833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794761 SCV000934188 likely benign Dyskeratosis congenita 2023-05-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000794761 SCV002531291 uncertain significance Dyskeratosis congenita 2021-08-09 criteria provided, single submitter curation

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