ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.1224-4dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003553289 SCV004268459 benign not provided 2023-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005051324 SCV005684437 uncertain significance Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2024-05-01 criteria provided, single submitter clinical testing

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