ClinVar Miner

Submissions for variant GRCh37/hg19 1q23.3(chr1:161255241-161276497)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415266 SCV000328780 pathogenic Congenital hypomyelinating neuropathy 1, autosomal recessive no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GFAP (NM_002055.4, c.215A>G) and MPZ (homozygous deletion of exons 4-6) in one individual with reported features that included global developmental delay, delayed speech, developmental regression, intellectual disability, Alexander disease with dystonia, leukodystrophy, nystagmus, seizure disorder, macrocephaly, osteoporosis, scoliosis/kyphosis, hip dysplasia and dislocation, eczema, chronic lung disease, and constipation.

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