ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs755093756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002522754 SCV002973763 likely benign not provided 2022-07-25 criteria provided, single submitter clinical testing
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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