ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1348-4dup

dbSNP: rs758567906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176028 SCV000227612 benign not specified 2014-11-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398775 SCV000425510 uncertain significance Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000398775 SCV002402707 benign Ehlers-Danlos syndrome, type 4 2024-01-31 criteria provided, single submitter clinical testing

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