ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28509A>G (p.Val9503=)

gnomAD frequency: 0.00001  dbSNP: rs756229382
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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 RCV000219643 SCV000270997 likely benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Val8259Val in exon 96 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/16476 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV001484183 SCV001688595 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-04-13 criteria provided, single submitter clinical testing

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