ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) (rs145957227)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554372 SCV000643230 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-09 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509322 SCV000606997 not provided not provided 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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