ClinVar Miner

Submissions for variant NM_001942.4(DSG1):c.2115C>T (p.Tyr705=)

gnomAD frequency: 0.00663  dbSNP: rs146192657
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953379 SCV001099949 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953379 SCV004140899 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing DSG1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000953379 SCV005247122 benign not provided criteria provided, single submitter not provided

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