ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3691-9T>C

gnomAD frequency: 0.00009  dbSNP: rs187584029
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200238 SCV000249755 benign not specified 2015-03-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000200238 SCV000302199 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229035 SCV000559985 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-11 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659454 SCV000781269 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002229035 SCV002554565 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269993 SCV002554566 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277466 SCV002565725 likely benign Ehlers-Danlos syndrome 2022-07-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001701556 SCV003800095 likely benign not provided 2022-06-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701556 SCV001931057 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701556 SCV001966789 likely benign not provided no assertion criteria provided clinical testing

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