ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.939A>C (p.Ala313=)

gnomAD frequency: 0.00001  dbSNP: rs1191660971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531282 SCV001746310 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003517334 SCV004260891 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-01-05 criteria provided, single submitter clinical testing

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