ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)

gnomAD frequency: 0.00003  dbSNP: rs762653511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348662 SCV000425612 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229877 SCV001011030 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-30 criteria provided, single submitter clinical testing

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