ClinVar Miner

Submissions for variant NM_001270.4(CHD1):c.1807C>G (p.Leu603Val)

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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 RCV003142367 SCV003807938 uncertain significance Pilarowski-Bjornsson syndrome 2022-12-07 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP2 supporting, PP3 supporting

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