ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5544G>A (p.Glu1848=)

gnomAD frequency: 0.00141  dbSNP: rs114674141
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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 RCV000871456 SCV001013121 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507516 SCV002807310 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-10-11 criteria provided, single submitter clinical testing

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