ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3453G>A (p.Glu1151=)

gnomAD frequency: 0.00001  dbSNP: rs1554108084
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641865 SCV000763515 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-07-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185022 SCV001351151 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing

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