Submissions for variant NM_182760.4(SUMF1):c.16C>T (p.Leu6=)

dbSNP: rs774160105

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000978762	SCV001126696	likely benign	Multiple sulfatase deficiency	2023-11-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000978762	SCV001306611	uncertain significance	Multiple sulfatase deficiency	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab	RCV000978762	SCV002027609	likely benign	Multiple sulfatase deficiency	2021-09-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000978762	SCV001460631	uncertain significance	Multiple sulfatase deficiency	2020-01-24	no assertion criteria provided	clinical testing