ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38256G>A (p.Pro12752=)

gnomAD frequency: 0.00004  dbSNP: rs794728014
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125779 SCV000169247 benign not specified 2014-05-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000866634 SCV001007758 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-07-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839957 SCV002101289 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839958 SCV002101290 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839959 SCV002101291 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839956 SCV002101293 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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