ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup)

dbSNP: rs557817405
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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 RCV000314657 SCV000433168 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516298 SCV000615791 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Invitae RCV000885847 SCV001029320 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885847 SCV004011322 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TGM6: PM4:Supporting, BS1

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