ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.49A>G (p.Ser17Gly)

gnomAD frequency: 0.00002  dbSNP: rs747231434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999043 SCV001155434 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858894 SCV002216615 benign Melnick-Fraser syndrome 2024-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479185 SCV002785704 uncertain significance Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2024-03-20 criteria provided, single submitter clinical testing

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