ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1452C>T (p.Pro484=) (rs755093756)

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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 RCV000456586 SCV000503049 likely benign Stickler syndrome type 1 2017-02-28 no assertion criteria provided clinical testing rare variant (ExAC) classified as likely benign (probably silent mutation): i) wobble base with low conservation, adenin on this position is probably evolutionary functional ii) multiple in silico analyses with benign consent

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