ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.244+49C>T

gnomAD frequency: 0.05168  dbSNP: rs13334220
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593993 SCV000700483 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001637096 SCV001849415 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800817 SCV002045072 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637096 SCV005252619 benign not provided criteria provided, single submitter not provided

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