ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.396-74A>C

dbSNP: rs1555899773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672502 SCV000797611 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2018-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672502 SCV004209826 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2022-04-19 criteria provided, single submitter clinical testing

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