ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1308T>A (p.Asn436Lys)

gnomAD frequency: 0.00001  dbSNP: rs1163162410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001326833 SCV001517883 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-09-01 criteria provided, single submitter clinical testing

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