ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24302T>A (p.Ile8101Asn)

gnomAD frequency: 0.00001  dbSNP: rs200423910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172386 SCV000051194 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000172386 SCV004565209 uncertain significance not provided 2023-10-09 criteria provided, single submitter clinical testing

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