ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.528T>C (p.Ala176=)

gnomAD frequency: 0.00009  dbSNP: rs138269123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880960 SCV001024093 likely benign Multiple sulfatase deficiency 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967982 SCV004786105 likely benign SUMF1-related condition 2021-07-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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