ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.219G>A (p.Val73=)

gnomAD frequency: 0.00003  dbSNP: rs115510540
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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 RCV002123530 SCV002449029 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494394 SCV002804830 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2022-01-06 criteria provided, single submitter clinical testing

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