ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.246T>C (p.Pro82=)

gnomAD frequency: 0.00003  dbSNP: rs768452683
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 RCV000975853 SCV001123744 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832227 SCV002089387 likely benign Bilateral frontoparietal polymicrogyria 2020-09-25 no assertion criteria provided clinical testing

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