ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.-2G>A

gnomAD frequency: 0.00224  dbSNP: rs141768405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724112 SCV000224652 uncertain significance not provided 2014-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000724112 SCV000729088 likely benign not provided 2022-08-08 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV001510325 SCV001717335 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2015-10-30 criteria provided, single submitter clinical testing

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