ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr)

gnomAD frequency: 0.00001  dbSNP: rs1386956312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV000997396 SCV002501147 uncertain significance not provided 2022-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505516 SCV002816018 uncertain significance 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 2021-08-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117672 SCV003801260 uncertain significance not specified 2023-01-21 criteria provided, single submitter clinical testing

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