ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)

dbSNP: rs1488146761
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140416 SCV003807095 pathogenic Microcephaly 5, primary, autosomal recessive 2022-06-03 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated, PM3 moderated

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