ClinVar Miner

Submissions for variant NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)

dbSNP: rs2150600578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital RCV001809318 SCV002059215 pathogenic Diamond-Blackfan anemia 1 2022-01-13 criteria provided, single submitter clinical testing This variant was associated to another variant : c.399+1G>T Classified as VUS but functional analysis has been performed and confirmed the pathogenicity. Publication submitted to Blood journal. In favorable revision in December 2021.
OMIM RCV002291229 SCV002583249 pathogenic Diamond-Blackfan anemia 21 2022-10-12 no assertion criteria provided literature only

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