ClinVar Miner

Submissions for variant NM_002945.5(RPA1):c.808A>G (p.Thr270Ala)

dbSNP: rs2151286956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001787404 SCV002030295 uncertain significance RPA1-related short telomere syndrome 2018-09-10 criteria provided, single submitter clinical testing This individual has been published in PMID: 34767620.
OMIM RCV001843378 SCV002102503 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 2023-05-10 no assertion criteria provided literature only

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