ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.1381-2A>G (rs1057518681)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bristol Genetics Laboratory - North Bristol NHS Trust,Southmead Hospital - Pathology Sciences RCV000488439 SCV000575898 likely pathogenic not provided 2017-01-19 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000415139 SCV000700172 likely pathogenic Verheij syndrome 2017-01-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415139 SCV000328768 pathogenic Verheij syndrome 2014-11-14 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in PUF60 (NM_001271099.1, c.1381-2A>G) and LOXHD1 (NM_144612.6, c.4217C>T and c.442A>T in trans) in one individual with reported features which include delayed motor milestones, delayed speech, intellectual disability, bilateral sensorineural hearing loss, febrile seizures, dysmorphic features, short stature, failure to thrive, and abnormal visual tracking.

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