ClinVar Miner

Submissions for variant NC_000005.10:g.156326898G>T

gnomAD frequency: 0.00013  dbSNP: rs531296131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664996 SCV000789046 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2016-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155415 SCV000205105 not provided not specified 2012-07-17 no assertion provided clinical testing

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