ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5625C>T (p.Ile1875=)

dbSNP: rs202007498
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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 RCV000915772 SCV001060990 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502766 SCV002808209 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2022-01-08 criteria provided, single submitter clinical testing

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