ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.989C>A (p.Ala330Glu)

gnomAD frequency: 0.00018  dbSNP: rs542237999
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806675 SCV000946688 likely benign Imerslund-Grasbeck syndrome 2024-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478870 SCV002790977 uncertain significance Imerslund-Grasbeck syndrome type 2 2022-02-04 criteria provided, single submitter clinical testing

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