ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1561A>G (p.Ser521Gly)

gnomAD frequency: 0.00344  dbSNP: rs140686800
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894580 SCV001038571 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000894580 SCV001768182 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278529 SCV002566432 benign Connective tissue disorder 2021-08-03 criteria provided, single submitter clinical testing

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