ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.2804_2807del (p.Val935fs)

dbSNP: rs2148738318
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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 RCV002244187 SCV002512547 likely pathogenic Radio-Tartaglia syndrome 2021-11-11 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate

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