ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.6780C>A (p.Val2260=)

gnomAD frequency: 0.00002  dbSNP: rs369765588
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 RCV003817608 SCV004617636 likely benign not provided 2024-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005013213 SCV005634839 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2024-06-06 criteria provided, single submitter clinical testing

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