ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4954+16G>A

gnomAD frequency: 0.00015  dbSNP: rs370938164
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
PreventionGenetics, part of Exact Sciences RCV000241575 SCV000302227 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057308 SCV002385647 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-05-29 criteria provided, single submitter clinical testing

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