ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.651G>T (p.Met217Ile)

gnomAD frequency: 0.00021  dbSNP: rs199887134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080063 SCV000111958 uncertain significance not provided 2013-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000080063 SCV002001579 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003514308 SCV004335591 likely benign Anophthalmia/microphthalmia-esophageal atresia syndrome 2022-12-25 criteria provided, single submitter clinical testing

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