ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1762-17G>A

gnomAD frequency: 0.00001  dbSNP: rs768134782
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002129375 SCV002409763 likely benign Ehlers-Danlos syndrome, type 4 2021-12-22 criteria provided, single submitter clinical testing

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