ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu)

gnomAD frequency: 0.00027  dbSNP: rs199931630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862311 SCV001002799 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001548347 SCV001768242 likely benign not provided 2019-11-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908175 SCV004719356 benign TCTN2-related condition 2020-02-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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