ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82328G>A (p.Arg27443His)

gnomAD frequency: 0.00001  dbSNP: rs551496477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734999 SCV000863186 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509369 SCV000607068 not provided Tibial muscular dystrophy 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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