ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5264-19T>G

gnomAD frequency: 0.00631  dbSNP: rs112155555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002118136 SCV002405054 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480956 SCV002797373 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-07-23 criteria provided, single submitter clinical testing

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