ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.31T>G (p.Trp11Gly)

gnomAD frequency: 0.00018  dbSNP: rs141178275
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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 RCV000963026 SCV001110152 benign not provided 2023-04-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137364 SCV001297298 benign Spinocerebellar ataxia type 35 2017-04-27 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000963026 SCV004700067 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TGM6: BS2

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