ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13757A>G (p.Glu4586Gly)

gnomAD frequency: 0.00010  dbSNP: rs371917393
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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 RCV001204187 SCV001375382 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252329 SCV002524017 likely benign See cases 2022-01-04 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BP4
GeneDx RCV001204187 SCV005078409 uncertain significance not provided 2024-04-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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