ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2851+52T>C

gnomAD frequency: 0.00004  dbSNP: rs370125588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671589 SCV000796577 likely benign Dyskeratosis congenita, autosomal recessive 5 2017-12-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704186 SCV005206110 likely benign not provided criteria provided, single submitter not provided

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