ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64719C>T (p.Asp21573=)

gnomAD frequency: 0.00001  dbSNP: rs727504967
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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 RCV000156379 SCV000206097 likely benign not specified 2014-03-05 criteria provided, single submitter clinical testing Asp19005Asp in TTN: This variant is not expected to have clinical significance b ecause it does not alter an amino acid residue and is not located within the spl ice consensus sequence. Asp19005Asp in exon 259 of TTN (allele frequency =n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV001478630 SCV001682903 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-27 criteria provided, single submitter clinical testing

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