ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.16282G>A (p.Val5428Met)

gnomAD frequency: 0.00010  dbSNP: rs199565262
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000997555 SCV001983200 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001257029 SCV001433585 uncertain significance Rare genetic intellectual disability no assertion criteria provided clinical testing

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