ClinVar Miner

Submissions for variant NM_004429.5(EFNB1):c.566T>C (p.Val189Ala)

gnomAD frequency: 0.01754  dbSNP: rs16989105
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000415485 SCV000328365 benign Craniofrontonasal syndrome 2016-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000949117 SCV001095350 benign not provided 2025-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000949117 SCV001898499 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000949117 SCV005279417 benign not provided criteria provided, single submitter not provided

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