ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.853-7T>C

gnomAD frequency: 0.00003  dbSNP: rs377063305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869330 SCV001010747 likely benign Ehlers-Danlos syndrome, type 4 2023-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001664507 SCV001881781 likely benign not provided 2020-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478977 SCV002799946 likely benign Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-09-28 criteria provided, single submitter clinical testing

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