ClinVar Miner

Submissions for variant NM_001318510.2(ACSL4):c.802del (p.Leu268fs)

dbSNP: rs2147437405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002210940 SCV002496163 pathogenic Intellectual disability, X-linked 63 2022-03-11 criteria provided, single submitter clinical testing ACMG categories: PVS1,PS5,PM2

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