ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3819G>A (p.Lys1273=)

dbSNP: rs1219896056
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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 RCV001469770 SCV001673858 likely benign Ehlers-Danlos syndrome, type 4 2018-04-10 criteria provided, single submitter clinical testing

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