ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4955-137C>T

gnomAD frequency: 0.02351  dbSNP: rs72774480
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572406 SCV001797037 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001572406 SCV005228542 likely benign not provided criteria provided, single submitter not provided

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