ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.402C>T (p.Pro134=)

gnomAD frequency: 0.00068  dbSNP: rs142833447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891246 SCV001035053 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001156383 SCV001317876 uncertain significance Sialidosis type 2 2017-06-20 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000891246 SCV001502482 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing NEU1: BP4, BP7

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