ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)

dbSNP: rs768643552
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gene Discovery Core-Manton Center, Boston Children's Hospital RCV000207220 SCV000262558 pathogenic Normal pressure hydrocephalus; Failure to thrive; Optic atrophy; Hypoventilation; Blindness; Bilateral ptosis; Hypertrophic cardiomyopathy; Global brain atrophy; Chronic lactic acidosis; Restrictive external ophthalmoplegia; Infantile muscular hypotonia; Severe global developmental delay; Diffuse cerebellar atrophy 2016-01-22 no assertion criteria provided research

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