ClinVar Miner

Submissions for variant NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs)

dbSNP: rs1555741826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000627684 SCV000611569 pathogenic Autism; Motor delay; Iris coloboma; Delayed speech and language development; Abnormality of vision 2017-11-15 criteria provided, single submitter clinical testing This variant was seen once in our laboratory de novo in a 8-year-old male with delayed motor milestones, delayed speech, intellectual disability, hypotonia, unilateral sensorineural hearing loss, dysmorphic features (downslanting palpebral fissures, ptosis, mid-face hypoplasia, low set ears), short stature, eye anomalies (esotropia, stellate iris, distichiasis), vision loss, and skeletal abnormalities (scapular winging).
OMIM RCV001722435 SCV001934623 pathogenic Neuroocular syndrome 2021-09-24 no assertion criteria provided literature only

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