ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1896C>T (p.Asp632=)

gnomAD frequency: 0.00808  dbSNP: rs74830351
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249480 SCV000308417 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000835288 SCV000977075 benign not provided 2019-07-03 criteria provided, single submitter clinical testing
Invitae RCV000835288 SCV001116248 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000835288 SCV001143301 benign not provided 2019-03-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278164 SCV002566434 benign Connective tissue disorder 2022-02-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000835288 SCV004150869 benign not provided 2024-02-01 criteria provided, single submitter clinical testing COL9A3: BP4, BP7, BS1, BS2

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