ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.1613C>T (p.Pro538Leu)

dbSNP: rs200461939
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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 RCV002243560 SCV002512266 uncertain significance Snijders Blok-Campeau syndrome 2021-03-18 criteria provided, single submitter clinical testing

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