ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp)

gnomAD frequency: 0.00001  dbSNP: rs765839032
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251994 SCV000318370 uncertain significance Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV000469472 SCV000542767 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001589298 SCV001823302 uncertain significance not provided 2021-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487141 SCV002790294 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001589298 SCV004225848 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing

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