ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.2132C>T (p.Pro711Leu)

gnomAD frequency: 0.00002  dbSNP: rs1030545345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570032 SCV001794227 likely benign not provided 2023-09-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001570032 SCV004681752 likely benign not provided 2024-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040324 SCV005678177 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2024-03-26 criteria provided, single submitter clinical testing

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