ClinVar Miner

Submissions for variant NC_000005.10:g.(78839427_78885583)_(78885828_78955294)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677437 SCV000802939 pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Frameshift variant (PVS1); Absent from GnomAD (PM2); In vitro functional studies supportive of a damaging effect on the gene product (demonstrated nonsense mediated RNA decay; PS3)

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