ClinVar Miner

Submissions for variant NM_005450.6(NOG):c.509del (p.Pro170fs)

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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 RCV004797270 SCV005415760 likely pathogenic Brachydactyly type B2; Symphalangism-brachydactyly syndrome; Tarsal-carpal coalition syndrome; Stapes ankylosis with broad thumbs and toes; Proximal symphalangism 1A criteria provided, single submitter clinical testing PVS1_Strong+PM2_Supporting+PS2_Supporting

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