ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.513+16A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003068264 SCV003452455 likely benign Imerslund-Grasbeck syndrome 2023-11-15 criteria provided, single submitter clinical testing

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