ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.675C>T (p.Phe225=)

gnomAD frequency: 0.00580  dbSNP: rs34520362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633456 SCV000754685 benign Mucopolysaccharidosis, MPS-III-A 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000633456 SCV001286016 benign Mucopolysaccharidosis, MPS-III-A 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab RCV000633456 SCV002045519 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000633456 SCV001453822 benign Mucopolysaccharidosis, MPS-III-A 2020-09-16 no assertion criteria provided clinical testing

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