ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.744+7G>A

dbSNP: rs774993105
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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 RCV000360590 SCV000425664 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003758753 SCV004535281 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-04-13 criteria provided, single submitter clinical testing

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