ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=)

gnomAD frequency: 0.00003  dbSNP: rs373304304
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 RCV001473229 SCV001677374 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001473229 SCV002802451 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2022-03-04 criteria provided, single submitter clinical testing

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