ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.976_977inv (p.Gln326Trp)

dbSNP: rs137853213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710925 SCV000841235 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000710925 SCV001729810 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
OMIM RCV000018683 SCV000038966 uncertain significance Intervertebral disc disease, susceptibility to 1999-07-16 no assertion criteria provided literature only

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