ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3201+10C>T

dbSNP: rs372405344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001413879 SCV001616001 likely benign Ehlers-Danlos syndrome, type 4 2024-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711604 SCV005262401 likely benign not provided criteria provided, single submitter not provided

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