ClinVar Miner

Submissions for variant NM_005632.2:c.2904+1_2905-45del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001254929 SCV001364377 likely pathogenic Congenital ocular coloboma; Congenital heart disease; Failure to thrive; Horseshoe kidney; Microcephaly; Dysmorphism; Hearing loss; imperforated anus; bilateral optic disc gliosis; Sacral dysplasia; Seziures 2019-06-20 criteria provided, single submitter clinical testing

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