ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.714G>A (p.Gln238=)

gnomAD frequency: 0.00150  dbSNP: rs116236946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916592 SCV001061837 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487991 SCV002797884 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-08-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000916592 SCV005236685 benign not provided criteria provided, single submitter not provided

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