ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.664-50G>A

gnomAD frequency: 0.03422  dbSNP: rs117217614
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252354 SCV000302959 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001618372 SCV001845229 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800623 SCV002045523 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618372 SCV005248861 benign not provided criteria provided, single submitter not provided

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