ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro)

dbSNP: rs560954695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000942712 SCV001088644 likely benign not provided 2023-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000942712 SCV001771882 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001276422 SCV001462693 uncertain significance Bilateral frontoparietal polymicrogyria 2020-02-13 no assertion criteria provided clinical testing

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