ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) (rs886044666)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000338560 SCV000328767 pathogenic Deafness, autosomal recessive 77 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. Heterozygotes for the LOXHD1 variants would not be expected to be affected.
Counsyl RCV000338560 SCV000797096 likely pathogenic Deafness, autosomal recessive 77 2018-01-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726621 SCV000345842 pathogenic not provided 2016-09-05 criteria provided, single submitter clinical testing

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