ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.568_570delinsAAT (p.Asp190Asn)

dbSNP: rs2116810690
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757562 SCV002007797 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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