ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.863C>T (p.Pro288Leu)

gnomAD frequency: 0.00001  dbSNP: rs148326029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334676 SCV001527585 uncertain significance Cleidocranial dysostosis 2018-09-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002504520 SCV002815519 uncertain significance Cleidocranial dysostosis; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2021-12-07 criteria provided, single submitter clinical testing

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