ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.*269C>T

gnomAD frequency: 0.00557  dbSNP: rs372857096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330979 SCV000478610 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001558739 SCV001780747 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001558739 SCV005228558 likely benign not provided criteria provided, single submitter not provided

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