ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3283G>A (p.Val1095Met)

dbSNP: rs757602436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329537 SCV001520997 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2020-01-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004692526 SCV005195091 uncertain significance not provided criteria provided, single submitter not provided

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