ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1003-42C>T

gnomAD frequency: 0.00674  dbSNP: rs139088253
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000243288 SCV000304606 likely benign not specified criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001516114 SCV001547871 benign Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Allele frequency is >5% in gnomAD v2.1.1 (BA1_stand-alone); allele frequency is greater than expected for disorder (BS1_strong);
Invitae RCV001516114 SCV001724340 benign Mucopolysaccharidosis, MPS-IV-A 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001668439 SCV001888548 benign not provided 2019-06-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9375852)
Genome-Nilou Lab RCV001516114 SCV002045053 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001516114 SCV002807734 benign Mucopolysaccharidosis, MPS-IV-A 2021-12-04 criteria provided, single submitter clinical testing

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