ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.7216-4G>A

gnomAD frequency: 0.00012  dbSNP: rs373594819
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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 RCV000923603 SCV001069087 likely benign not provided 2023-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502806 SCV002807755 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-12-05 criteria provided, single submitter clinical testing

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