ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup)

gnomAD frequency: 0.00008  dbSNP: rs773508976
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945922 SCV001091997 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132125 SCV003814282 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2019-12-18 criteria provided, single submitter clinical testing

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