ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.602del (p.Gly201fs)

dbSNP: rs863223336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003329251 SCV000223145 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2015-05-01 no assertion criteria provided literature only
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center RCV002509275 SCV002547339 likely risk allele Pulmonary fibrosis 2022-06-09 no assertion criteria provided research

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