ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6326T>C (p.Ile2109Thr)

gnomAD frequency: 0.00034  dbSNP: rs369891542
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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 RCV001066837 SCV001231858 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001066837 SCV002818939 uncertain significance not provided 2023-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV001066837 SCV005189116 uncertain significance not provided criteria provided, single submitter not provided

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