ClinVar Miner

Submissions for variant NM_003995.4(NPR2):c.1117T>C (p.Tyr373His)

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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 RCV003225871 SCV003808007 uncertain significance Acromesomelic dysplasia 1, Maroteaux type 2022-09-23 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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