ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.139+4G>A

gnomAD frequency: 0.00140  dbSNP: rs1023653032
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838576 SCV000980446 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Invitae RCV001086605 SCV001019483 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001086605 SCV001523967 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2019-08-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV001086605 SCV002084235 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2019-11-11 no assertion criteria provided clinical testing

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