ClinVar Miner

Submissions for variant NM_018518.5(MCM10):c.236del (p.Gly79fs)

dbSNP: rs2131558198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust RCV003325996 SCV003853385 pathogenic Fetal Cardiomyopathy 2023-03-23 criteria provided, single submitter clinical testing
OMIM RCV001391308 SCV001593274 pathogenic Immunodeficiency 80 with or without congenital cardiomyopathy 2021-05-11 no assertion criteria provided literature only

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