ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.7520-5del

dbSNP: rs36084034
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289348 SCV000384233 likely benign Fraser syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056383 SCV002356722 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494976 SCV002802250 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-08-11 criteria provided, single submitter clinical testing

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