ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.3472-20T>C

gnomAD frequency: 0.01216  dbSNP: rs77508679
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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 RCV002115648 SCV002391687 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499990 SCV002808304 likely benign Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2022-02-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002115648 SCV005266790 benign not provided criteria provided, single submitter not provided

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