ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=)

gnomAD frequency: 0.00009  dbSNP: rs374590440
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 RCV001432822 SCV001635601 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-02-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001432822 SCV002084202 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-06-13 no assertion criteria provided clinical testing

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