ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4446+14C>T

dbSNP: rs1564481400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680510 SCV000807895 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV002544698 SCV003231941 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-08-23 criteria provided, single submitter clinical testing

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