ClinVar Miner

Submissions for variant NM_015340.3(LARS2):c.457A>C (p.Asn153His) (rs786205560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000723297 SCV000854687 uncertain significance Hydrops, lactic acidosis, and sideroblastic anemia 2018-05-23 no assertion criteria provided clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171359 SCV000221556 likely pathogenic not provided no assertion criteria provided research

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