ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.4581C>T (p.Ser1527=)

gnomAD frequency: 0.00039  dbSNP: rs114925418
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876233 SCV001018777 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487924 SCV002799193 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-10-02 criteria provided, single submitter clinical testing

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