ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1068C>T (p.His356=)

gnomAD frequency: 0.00001  dbSNP: rs372834434
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001406915 SCV001608879 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2023-05-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001406915 SCV002804140 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2022-03-16 criteria provided, single submitter clinical testing

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