ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37705G>A (p.Val12569Ile)

gnomAD frequency: 0.03479  dbSNP: rs568086259
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229472 SCV000286619 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001610538 SCV001837363 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840401 SCV002101302 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840402 SCV002101304 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840403 SCV002101305 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840400 SCV002101306 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610538 SCV005239085 benign not provided criteria provided, single submitter not provided

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