ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2946C>T (p.Ile982=)

gnomAD frequency: 0.00003  dbSNP: rs555904044
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416084 SCV000493480 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000416084 SCV002436947 likely benign not provided 2024-12-19 criteria provided, single submitter clinical testing

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