ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=)

gnomAD frequency: 0.00023  dbSNP: rs145016043
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876571 SCV001019162 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001550328 SCV001770639 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279590 SCV002565645 uncertain significance Ehlers-Danlos syndrome 2019-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001550328 SCV003917018 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ADAMTS2: BP4, BP7
Natera, Inc. RCV000876571 SCV001457821 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-05-01 no assertion criteria provided clinical testing

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