ClinVar Miner

Submissions for variant NM_199355.4(ADAMTS18):c.3565G>A (p.Val1189Ile)

gnomAD frequency: 0.00638  dbSNP: rs61749042
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000954998 SCV001101671 benign not provided 2025-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954998 SCV004145053 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ADAMTS18: BP4, BS2

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