ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)

gnomAD frequency: 0.00085  dbSNP: rs201984297
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919538 SCV001064885 likely benign Multiple sulfatase deficiency 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001593130 SCV001822635 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Genome-Nilou Lab RCV000919538 SCV002027607 uncertain significance Multiple sulfatase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001593130 SCV004226044 uncertain significance not provided 2023-04-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000919538 SCV001460628 uncertain significance Multiple sulfatase deficiency 2020-01-10 no assertion criteria provided clinical testing

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