ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.978G>A (p.Glu326=)

gnomAD frequency: 0.02889  dbSNP: rs41310197
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549064 SCV000653558 benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001551169 SCV001771618 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001551169 SCV005210168 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276036 SCV001461864 benign Dyskeratosis congenita 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796120 SCV002036269 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796120 SCV002037956 benign not specified no assertion criteria provided clinical testing

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