ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.2159-1G>C

dbSNP: rs2147349266
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788495 SCV001712205 pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome 2021-05-13 no assertion criteria provided clinical testing

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