ClinVar Miner

Submissions for variant NM_005664.4(MKRN3):c.482del (p.Pro161fs)

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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 RCV003142246 SCV003807671 pathogenic Precocious puberty, central, 2 2023-01-09 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 moderated, PM2 moderated

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