ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg)

dbSNP: rs104893989
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Total submissions: 2
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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 RCV000009881 SCV003808017 likely pathogenic Cleidocranial dysostosis 2022-06-20 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 moderated, PM2 moderated, PM6 moderated, PP3 supporting
OMIM RCV000009881 SCV000030102 pathogenic Cleidocranial dysostosis 1997-07-01 no assertion criteria provided literature only

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