ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.447T>C (p.Ala149=)

gnomAD frequency: 0.00001  dbSNP: rs750372409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001150136 SCV001311149 uncertain significance Multiple sulfatase deficiency 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001150136 SCV001624680 likely benign Multiple sulfatase deficiency 2023-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001150136 SCV002027605 likely benign Multiple sulfatase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001150136 SCV002079167 likely benign Multiple sulfatase deficiency 2020-04-23 no assertion criteria provided clinical testing

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