ClinVar Miner

Submissions for variant NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter)

dbSNP: rs1336566500
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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 RCV001172378 SCV001146851 pathogenic Immunodeficiency with T and B cell lymphopenia 2019-12-01 criteria provided, single submitter research Ten patients from seven unrelated pedigrees with variable T and B cell lymphopenia, who are homozygous for six distinct mutations in FCHO1.
Genomics Facility, Ludwig-Maximilians-Universität München RCV001194473 SCV001146888 pathogenic Severe congenital neutropenia 2019-12-01 no assertion criteria provided research

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