ClinVar Miner

Submissions for variant NM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs)

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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 RCV003140587 SCV003807489 uncertain significance Microcephaly 21, primary, autosomal recessive 2022-05-25 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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