ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs)

dbSNP: rs1553704327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000515143 SCV005416278 pathogenic Clark-Baraitser syndrome criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PS4_Supporting+PM6_Supporting
OMIM RCV000515143 SCV000611106 pathogenic Clark-Baraitser syndrome 2020-04-15 no assertion criteria provided literature only

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