ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25147A>G (p.Ile8383Val)

gnomAD frequency: 0.00001  dbSNP: rs886038829
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
Ambry Genetics RCV000241579 SCV000318256 uncertain significance Cardiovascular phenotype 2013-02-04 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786255 SCV000925006 uncertain significance not provided 2013-02-05 no assertion criteria provided provider interpretation

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