ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7563T>C (p.Asp2521=) (rs984412074)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773440 SCV000907134 likely benign Cardiomyopathy 2018-07-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825754 SCV000967216 likely benign not specified 2018-05-24 criteria provided, single submitter clinical testing p.Asp2521Asp in exon24 of DSP: This variant is classified as likely benign becau se it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly crea ted splice site. This variant has been identified in 2/33580 Latino chromosomes by the Genome Aggregation Database (gnomAD,; db SNP rs984412074). ACMG/AMP criteria applied: BP4, BP7.
Invitae RCV000866114 SCV001007166 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000773440 SCV001332692 likely benign Cardiomyopathy 2017-12-07 criteria provided, single submitter clinical testing

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