ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=)

dbSNP: rs1235773868
Minimum review status: Collection method:
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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 RCV001425280 SCV001627906 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2023-05-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001425280 SCV002084226 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-10-05 no assertion criteria provided clinical testing

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