ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His)

gnomAD frequency: 0.00383  dbSNP: rs115510695
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517066 SCV000612706 likely benign not specified 2017-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000897482 SCV001041628 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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