ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3040-8T>C

gnomAD frequency: 0.00002  dbSNP: rs886055355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279171 SCV000425631 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229881 SCV001705336 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-12-18 criteria provided, single submitter clinical testing

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