ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1456-16C>G

dbSNP: rs748670622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812453 SCV001472053 likely benign not provided 2020-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770441 SCV004695257 likely benign Ehlers-Danlos syndrome, type 4 2022-12-24 criteria provided, single submitter clinical testing

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