ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=)

gnomAD frequency: 0.00136  dbSNP: rs199536020
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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 RCV000516629 SCV000612700 likely benign not specified 2016-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000970478 SCV001118056 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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