ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)

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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 RCV003142328 SCV003807861 likely pathogenic Ritscher-Schinzel syndrome 1 2022-04-19 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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