ClinVar Miner

Submissions for variant NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)

dbSNP: rs1555740394
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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 RCV000627685 SCV000611570 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 6.6-year-old male with bilateral inferior iris coloboma, myopia, exotropia, vision loss, delayed motor milestones, delayed speech, attention deficit hyperactivity disorder, anxiety, possible hypertonia, brisk reflexes, microcephaly, dysmorphic features, patent foramen ovale, central obstructive sleep apnea, tibial torsion, pes planus, joint laxity, easy bruising, eczema and a history of umbilical hernia and ankyloglossia.
Daryl Scott Lab, Baylor College of Medicine RCV003403206 SCV004102729 pathogenic Neuroocular syndrome 2023-11-10 criteria provided, single submitter clinical testing

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