ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)

gnomAD frequency: 0.00002  dbSNP: rs377049803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276698 SCV000425625 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002229880 SCV001417880 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-06-20 criteria provided, single submitter clinical testing
GeneDx RCV001545361 SCV001764683 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002487480 SCV002782750 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2021-10-08 criteria provided, single submitter clinical testing

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