ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.399G>A (p.Pro133=)

gnomAD frequency: 0.00006  dbSNP: rs146356299
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002066306 SCV002421113 likely benign Melnick-Fraser syndrome 2021-05-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502937 SCV002811401 likely benign Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2021-10-23 criteria provided, single submitter clinical testing

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