ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr)

gnomAD frequency: 0.00245  dbSNP: rs190390987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174278 SCV000225555 benign not specified 2015-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000227271 SCV000519924 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396109 SCV001597829 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000227271 SCV005218813 likely benign not provided criteria provided, single submitter not provided

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