ClinVar Miner

Submissions for variant NM_003282.4(TNNI2):c.387G>A (p.Ser129=)

gnomAD frequency: 0.00034  dbSNP: rs139399106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343871 SCV000369693 uncertain significance Arthrogryposis multiplex congenita distal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392125 SCV000369694 uncertain significance Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697740 SCV000532769 likely benign not provided 2020-03-09 criteria provided, single submitter clinical testing

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