ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63535A>G (p.Ser21179Gly)

gnomAD frequency: 0.00001  dbSNP: rs772529311
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV000850073 SCV000992238 uncertain significance Congenital myopathy 2018-08-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432784 SCV004152338 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing

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