ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu) (rs1592232018)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV000844889 SCV000965584 likely benign Achondrogenesis type II 2019-05-31 no assertion criteria provided clinical testing This variant was not listed in the databases (ClinVar, LOVD). GnomAD shows no entry (very rare or private variant). In silico analyses show contradictory results. We found this variant in a 26 year old healthy male and therefore rated this variant likely benign.

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