ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=)

gnomAD frequency: 0.00003  dbSNP: rs560354978
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
Invitae RCV000877072 SCV001019744 benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000877072 SCV001458861 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2020-01-24 no assertion criteria provided clinical testing

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