ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)

dbSNP: rs1569155643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088553 SCV001007884 benign Oculofaciocardiodental syndrome 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000722304 SCV001834388 benign not provided 2020-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507270 SCV002811157 likely benign Microphthalmia, syndromic 1; Oculofaciocardiodental syndrome 2021-07-08 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722304 SCV000853435 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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