ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3253G>T (p.Ala1085Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004527919 SCV004102939 uncertain significance RTEL1-related disorder 2023-09-19 criteria provided, single submitter clinical testing The RTEL1 c.3325G>T variant is predicted to result in the amino acid substitution p.Ala1109Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005036773 SCV005663969 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-04-13 criteria provided, single submitter clinical testing

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