ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2065C>T (p.Pro689Ser)

gnomAD frequency: 0.00001  dbSNP: rs943838033
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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 RCV005091520 SCV005768402 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-10-22 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583877 SCV000692240 uncertain significance Aortic dilatation 2017-05-31 no assertion criteria provided clinical testing

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