ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn)

gnomAD frequency: 0.00001  dbSNP: rs369302142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141714 SCV003819010 uncertain significance not provided 2019-05-02 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709885 SCV000840226 not provided 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 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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