ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47887A>G (p.Met15963Val)

gnomAD frequency: 0.00002  dbSNP: rs397517590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040287 SCV000063978 uncertain significance not specified 2012-02-06 criteria provided, single submitter clinical testing The Met13395Val variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, and SIFT) do not provide strong support f or or against pathogenicity. Additional information is needed to fully assess th e clinical significance of the Met13395Val variant.
GeneDx RCV001711128 SCV000237223 likely benign not provided 2018-05-09 criteria provided, single submitter clinical testing

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