ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.93C>T (p.Asp31=)

gnomAD frequency: 0.00011  dbSNP: rs772599857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866778 SCV001007920 benign Imerslund-Grasbeck syndrome 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507493 SCV002809123 likely benign Imerslund-Grasbeck syndrome type 2 2021-12-22 criteria provided, single submitter clinical testing

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