ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser)

dbSNP: rs1563388121
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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 RCV000680007 SCV000807445 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory homozygous in a 8-year-old female with developmental delay with regression, intellectual disability, PDD, sleep disruption, hyperactivity, mild sensorineural hearing loss, mild dysmorphisms

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