ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3444T>C (p.Pro1148=)

gnomAD frequency: 0.00002  dbSNP: rs776077444
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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 RCV002117129 SCV002397290 likely benign Ehlers-Danlos syndrome, type 4 2021-10-25 criteria provided, single submitter clinical testing

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