ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1597_1598del (p.Lys533fs)

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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 RCV004795701 SCV005417263 likely pathogenic Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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