ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.6465T>C (p.Asp2155=)

gnomAD frequency: 0.00005  dbSNP: rs373878188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872875 SCV001014761 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507523 SCV002807536 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-08-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000872875 SCV004133066 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing FREM2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000872875 SCV005215575 likely benign not provided criteria provided, single submitter not provided

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