ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs)

dbSNP: rs2139312594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001095384 SCV001250992 pathogenic Imerslund-Grasbeck syndrome type 2 2020-05-19 no assertion criteria provided literature only

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