ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.1627C>A (p.Leu543Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bone Marrow Failure laboratory, Queen Mary University London RCV003991550 SCV004098903 likely pathogenic Inherited aplastic anemia criteria provided, single submitter research

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