ClinVar Miner

Submissions for variant NC_000007.14:g.73304277_74727414del

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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 RCV003318489 SCV004022302 pathogenic Williams syndrome 2021-11-16 criteria provided, single submitter clinical testing

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