ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.468_471del (p.Lys156fs)

dbSNP: rs2147523877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814515 SCV001755513 likely pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004598016 SCV005092388 pathogenic not provided 2024-07-01 criteria provided, single submitter clinical testing OPHN1: PVS1, PS2, PM2
Fulgent Genetics, Fulgent Genetics RCV005040310 SCV005678178 likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome 2024-04-28 criteria provided, single submitter clinical testing

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