ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.250-26C>T

gnomAD frequency: 0.54568  dbSNP: rs4889839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242315 SCV000302954 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000676155 SCV001943909 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800621 SCV002045527 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676155 SCV000801906 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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