ClinVar Miner

Submissions for variant NM_182922.4(HEATR3):c.399+1G>T

dbSNP: rs2150594383
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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 RCV001809317 SCV002059206 pathogenic Diamond-Blackfan anemia 1 2022-01-13 criteria provided, single submitter clinical testing
OMIM RCV002291228 SCV002583250 pathogenic Diamond-Blackfan anemia 21 2022-10-11 no assertion criteria provided literature only

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