ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) (rs193922671)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029683 SCV000052335 likely pathogenic Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000983907 SCV001131955 likely benign not provided 2018-10-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000029683 SCV001332696 uncertain significance Cardiomyopathy 2017-11-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV000029683 SCV001351139 uncertain significance Cardiomyopathy 2020-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332449 SCV001524777 uncertain significance Arrhythmogenic right ventricular dysplasia 8 2019-06-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001506216 SCV001711135 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2020-05-04 criteria provided, single submitter clinical testing

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