ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.898+25C>G

gnomAD frequency: 0.04554  dbSNP: rs113936280
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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 RCV000241634 SCV000304623 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000241634 SCV000700292 benign not specified 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000675536 SCV001868107 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800628 SCV002045059 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675536 SCV005252593 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675536 SCV000801227 benign not provided 2017-04-24 no assertion criteria provided clinical testing

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