ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15177C>T (p.Asp5059=)

gnomAD frequency: 0.00003  dbSNP: rs74607159
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001497890 SCV001702627 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883676 SCV004701923 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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