ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.62C>T (p.Ala21Val)

dbSNP: rs2136216750
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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 RCV002243551 SCV002512234 likely pathogenic Hyperimmunoglobulin D with periodic fever 2021-11-01 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 supporting, PM2 moderate, PM3 supporting, PP3 supporting

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