ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.787-42C>T

gnomAD frequency: 0.39339  dbSNP: rs3124302
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247327 SCV000302251 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830143 SCV000971878 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001658151 SCV001876307 benign Ehlers-Danlos syndrome, classic type, 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658152 SCV001876318 benign Fibromuscular dysplasia, multifocal 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830143 SCV005320989 benign not provided criteria provided, single submitter not provided

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