ClinVar Miner

Submissions for variant NC_000002.12:g.178611280T>G

gnomAD frequency: 0.00046  dbSNP: rs146208555
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229734 SCV000286702 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001705254 SCV000714319 likely benign not provided 2020-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840425 SCV002100584 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840426 SCV002100585 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840427 SCV002100586 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840424 SCV002100588 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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