ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2086-12del

dbSNP: rs5837121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198563 SCV000249937 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in TAADV2-WO-FBN1-PANCARD,TAADV2-PANCARD,TAAD,TAADV2-1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000198563 SCV000538720 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome-Nilou Lab RCV001657982 SCV001876595 benign Ehlers-Danlos syndrome, classic type, 2 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057028 SCV002424022 benign Ehlers-Danlos syndrome, classic type, 1 2025-02-04 criteria provided, single submitter clinical testing

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