ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.314G>C (p.Gly105Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004819961 SCV005440613 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PP2+PM1+PS2_Supporting

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