ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.2538C>A (p.Ile846=)

gnomAD frequency: 0.00039  dbSNP: rs377627650
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001927030 SCV002206456 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491943 SCV002797996 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-09-22 criteria provided, single submitter clinical testing

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