ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5136+73G>A

gnomAD frequency: 0.00011  dbSNP: rs560195385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489504 SCV000577576 likely benign not provided 2020-08-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
GenomeConnect, ClinGen RCV000509316 SCV000607020 not provided Ehlers-Danlos syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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