ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.96G>T (p.Leu32=)

gnomAD frequency: 0.00324  dbSNP: rs113719127
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326760 SCV000389266 benign Galactosylceramide beta-galactosidase 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Eurofins Ntd Llc (ga) RCV000594216 SCV000700288 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000326760 SCV001019729 benign Galactosylceramide beta-galactosidase deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706484 SCV001837573 benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000326760 SCV002808533 likely benign Galactosylceramide beta-galactosidase deficiency 2022-03-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000326760 SCV002093665 likely benign Galactosylceramide beta-galactosidase deficiency 2019-10-23 no assertion criteria provided clinical testing

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