ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.561A>G (p.Gln187=) (rs74430256)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080070 SCV001019279 benign Mucopolysaccharidosis type 7 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001080070 SCV001322680 benign Mucopolysaccharidosis type 7 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000675837 SCV000801560 benign not provided 2017-06-28 no assertion criteria provided clinical testing

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