ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.256G>C (p.Asp86His) (rs573892607)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150159 SCV000197049 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Asp86His variant in ANKRD1 has been identified by our laboratory in 1 South Indian infant with HCM and transposition of the great arteries. It was absent fr om large population studies. Computational prediction tools and conservation ana lysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical si gnificance of the Asp86His variant is uncertain.
Invitae RCV001417860 SCV001620066 likely benign ANKRD1-related dilated cardiomyopathy 2020-10-15 criteria provided, single submitter clinical testing

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