ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.64G>A (p.Gly22Ser)

gnomAD frequency: 0.00014  dbSNP: rs727504169
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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) RCV000153989 SCV000203614 uncertain significance not provided 2014-03-12 criteria provided, single submitter clinical testing
Invitae RCV002514963 SCV003296196 likely benign Anophthalmia/microphthalmia-esophageal atresia syndrome 2023-12-10 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849322 SCV002106762 uncertain significance Amenorrhea 2021-03-08 no assertion criteria provided literature only

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