ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.553C>T (p.Leu185=)

gnomAD frequency: 0.00001  dbSNP: rs138495764
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 RCV000975579 SCV001123465 likely benign not provided 2024-02-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276423 SCV001462694 likely benign Bilateral frontoparietal polymicrogyria 2020-04-25 no assertion criteria provided clinical testing

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