ClinVar Miner

Submissions for variant NM_001144967.3(NEDD4L):c.514-4G>A

gnomAD frequency: 0.01389  dbSNP: rs78005374
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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 RCV000462269 SCV000563278 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000462269 SCV001779317 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000462269 SCV005208135 likely benign not provided criteria provided, single submitter not provided

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