ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=)

gnomAD frequency: 0.00002  dbSNP: rs150587776
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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
Illumina Laboratory Services, Illumina RCV000360859 SCV000456856 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000360859 SCV001601665 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-05-23 criteria provided, single submitter clinical testing

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