ClinVar Miner

Submissions for variant NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro)

dbSNP: rs2086875746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Facility, Ludwig-Maximilians-Universität München RCV001194469 SCV001146884 pathogenic Severe congenital neutropenia 2019-12-01 no assertion criteria provided research
OMIM RCV001290961 SCV001479307 pathogenic Immunodeficiency 76 2021-02-10 no assertion criteria provided literature only

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