ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr)

gnomAD frequency: 0.00001  dbSNP: rs763066236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000500752 SCV000590918 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003679007 SCV004400083 benign not provided 2024-12-31 criteria provided, single submitter clinical testing

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