ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.246C>T (p.Cys82=)

gnomAD frequency: 0.00001  dbSNP: rs766485109
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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 RCV000893389 SCV001037317 likely benign not provided 2024-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495403 SCV002795655 likely benign Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2021-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000893389 SCV005396786 uncertain significance not provided 2024-05-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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