ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.219C>T (p.Asp73=)

gnomAD frequency: 0.00001  dbSNP: rs886038228
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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 RCV000246001 SCV000302033 likely benign not specified criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659411 SCV000781222 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184768 SCV001350830 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001433214 SCV001636003 likely benign Ehlers-Danlos syndrome, type 4 2023-07-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277601 SCV002565624 uncertain significance Ehlers-Danlos syndrome 2019-12-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001433214 SCV004830650 likely benign Ehlers-Danlos syndrome, type 4 2023-11-30 criteria provided, single submitter clinical testing

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