ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)

gnomAD frequency: 0.00010  dbSNP: rs199931771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033964 SCV001197287 likely benign Mucopolysaccharidosis type 6 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001759926 SCV001989788 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001033964 SCV003825034 uncertain significance Mucopolysaccharidosis type 6 2023-08-24 criteria provided, single submitter clinical testing

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