ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.483C>T (p.Phe161=)

dbSNP: rs540878376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002097925 SCV002388331 likely benign not provided 2022-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479899 SCV002797193 likely benign Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2022-03-22 criteria provided, single submitter clinical testing

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