ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2770-15del (rs577038385)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200562 SCV000249941 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in TAAD,TAADV2-1
PreventionGenetics,PreventionGenetics RCV000200562 SCV000303992 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339968 SCV000425635 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing

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