ClinVar Miner

Submissions for variant NM_000476.3(AK1):c.516+11C>T

dbSNP: rs115263629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227307 SCV002506054 likely benign Hemolytic anemia due to adenylate kinase deficiency 2023-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093894 SCV002936670 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003093894 SCV005227531 likely benign not provided criteria provided, single submitter not provided

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